Canonical Allele Identifier: CA375311117

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393843C>G (hg19) ; chr9:g.131518456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518456C>G , CM000671.2:g.131518456C>G	GRCh38
NC_000009.11:g.134393843C>G , CM000671.1:g.134393843C>G	GRCh37
NC_000009.10:g.133383664C>G	NCBI36
NG_008896.1:g.20555C>G
NG_008896.2:g.20555C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1122C>G	ENSP00000343034.7:p.Asn374Lys
ENST00000404875.7:n.1824C>G
ENST00000423007.6:c.1341C>G	ENSP00000404119.2:p.Asn447Lys
ENST00000677295.2:c.*1628C>G	ENSP00000504346.2:n.*1628C>G
ENST00000678264.2:c.*1467C>G	ENSP00000503157.2:n.*1467C>G
ENST00000682070.1:n.1749C>G
ENST00000682535.1:n.56C>G
ENST00000682539.1:c.222C>G
ENST00000682813.1:n.1549C>G
ENST00000683110.1:n.12C>G
ENST00000683392.1:n.4031C>G
ENST00000683712.1:n.1689C>G
ENST00000683900.1:n.3184C>G
ENST00000684062.1:n.1950C>G
ENST00000684579.1:n.3130C>G
ENST00000684679.1:n.511C>G
ENST00000341012.12:c.1122C>G	ENSP00000343034.7:p.Asn374Lys
ENST00000372220.5:c.153C>G	ENSP00000361294.5:p.Asn51Lys
ENST00000372228.9:c.1350C>G	ENSP00000361302.3:p.Asn450Lys
ENST00000402686.8:c.1284C>G MANE Select	ENSP00000385797.4:p.Asn428Lys
ENST00000676640.1:c.1284C>G	ENSP00000503281.1:p.Asn428Lys
ENST00000676803.1:c.459C>G	ENSP00000503093.1:p.Asn153Lys
ENST00000676835.1:c.*499C>G	ENSP00000502911.1:n.*499C>G
ENST00000677029.1:c.828C>G	ENSP00000502936.1:p.Asn276Lys
ENST00000677099.1:c.*994C>G	ENSP00000504553.1:n.*994C>G
ENST00000677216.1:c.933C>G	ENSP00000503772.1:p.Asn311Lys
ENST00000677221.1:n.309C>G
ENST00000677295.1:c.*661C>G	ENSP00000504346.1:n.*661C>G
ENST00000677444.1:c.1090C>G
ENST00000677586.1:n.765C>G
ENST00000677626.1:c.933C>G	ENSP00000503552.1:p.Asn311Lys
ENST00000677677.1:n.1244C>G
ENST00000677853.1:c.*292C>G	ENSP00000503488.1:n.*292C>G
ENST00000677944.1:c.546C>G
ENST00000677983.1:n.373C>G
ENST00000678202.1:n.304C>G
ENST00000678264.1:c.*661C>G	ENSP00000503157.1:n.*661C>G
ENST00000678303.1:c.1194C>G	ENSP00000503696.1:p.Asn398Lys
ENST00000678366.1:c.*1533C>G	ENSP00000504353.1:n.*1533C>G
ENST00000678546.1:c.*1229C>G	ENSP00000503062.1:n.*1229C>G
ENST00000678548.1:c.*1356C>G	ENSP00000503934.1:n.*1356C>G
ENST00000678626.1:n.981C>G
ENST00000678733.1:c.365C>G
ENST00000678739.1:c.*1610C>G	ENSP00000503806.1:n.*1610C>G
ENST00000678795.1:n.371C>G
ENST00000678833.1:c.*731C>G	ENSP00000503893.1:n.*731C>G
ENST00000678942.1:c.464C>G	ENSP00000504690.1:n.464C>G
ENST00000679023.1:c.1122C>G	ENSP00000503718.1:p.Asn374Lys
ENST00000679076.1:c.903C>G
ENST00000679111.1:c.1284C>G	ENSP00000504257.1:p.Asn428Lys
ENST00000679189.1:c.933C>G	ENSP00000503356.1:p.Asn311Lys
ENST00000341012.11:c.1122C>G	ENSP00000343034.7:p.Asn374Lys
ENST00000372220.4:c.147C>G	ENSP00000361294.4:p.Asn49Lys
ENST00000372228.7:c.1350C>G	ENSP00000361302.3:p.Asn450Lys
ENST00000402686.7:c.1284C>G	ENSP00000385797.3:p.Asn428Lys
ENST00000404875.6:c.933C>G	ENSP00000384531.2:p.Asn311Lys
ENST00000423007.5:c.1284C>G	ENSP00000404119.1:p.Asn428Lys
ENST00000485278.5:n.1839C>G
NM_001077365.1:c.1284C>G	NP_001070833.1:p.Asn428Lys
NM_001077366.1:c.1122C>G	NP_001070834.1:p.Asn374Lys
NM_001136113.1:c.1284C>G	NP_001129585.1:p.Asn428Lys
NM_001136114.1:c.933C>G	NP_001129586.1:p.Asn311Lys
NM_007171.3:c.1350C>G	NP_009102.3:p.Asn450Lys
XM_005272156.1:c.1350C>G	XP_005272213.1:p.Asn450Lys
XM_005272158.1:c.1188C>G	XP_005272215.1:p.Asn396Lys
XM_005272159.1:c.999C>G	XP_005272216.1:p.Asn333Lys
XM_005272162.1:c.153C>G	XP_005272219.1:p.Asn51Lys
XM_006716932.1:c.999C>G	XP_006716995.1:p.Asn333Lys
XM_011518140.1:c.1203C>G	XP_011516442.1:p.Asn401Lys
XM_011518141.1:c.1137C>G	XP_011516443.1:p.Asn379Lys
XM_011518142.1:c.1041C>G	XP_011516444.1:p.Asn347Lys
XM_011518143.1:c.1035C>G	XP_011516445.1:p.Asn345Lys
XM_011518144.1:c.1350C>G	XP_011516446.1:p.Asn450Lys
XM_011518145.1:c.894C>G	XP_011516447.1:p.Asn298Lys
XM_011518146.1:c.1035C>G	XP_011516448.1:p.Asn345Lys
XM_011518147.1:c.222C>G	XP_011516449.1:p.Asn74Lys
XR_929703.1:n.1526C>G
NM_001353193.1:c.1350C>G	NP_001340122.1:p.Asn450Lys
NM_001353194.1:c.1122C>G	NP_001340123.1:p.Asn374Lys
NM_001353195.1:c.933C>G	NP_001340124.1:p.Asn311Lys
NM_001353196.1:c.1194C>G	NP_001340125.1:p.Asn398Lys
NM_001353197.1:c.1188C>G	NP_001340126.1:p.Asn396Lys
NM_001353198.1:c.1188C>G	NP_001340127.1:p.Asn396Lys
NM_001353199.1:c.999C>G	NP_001340128.1:p.Asn333Lys
NM_001353200.1:c.828C>G	NP_001340129.1:p.Asn276Lys
NR_148391.1:n.1334C>G
NR_148392.1:n.1552C>G
NR_148393.1:n.1334C>G
NR_148394.1:n.1227C>G
NR_148395.1:n.1486C>G
NR_148396.1:n.1120C>G
NR_148397.1:n.1384C>G
NR_148398.1:n.1339C>G
NR_148399.1:n.1726C>G
NR_148400.1:n.1325C>G
XM_005272162.3:c.153C>G	XP_005272219.1:p.Asn51Lys
XM_006716932.2:c.999C>G	XP_006716995.1:p.Asn333Lys
XM_011518140.2:c.1203C>G	XP_011516442.1:p.Asn401Lys
XM_011518141.2:c.1137C>G	XP_011516443.1:p.Asn379Lys
XM_011518142.2:c.1041C>G	XP_011516444.1:p.Asn347Lys
XM_011518143.2:c.1035C>G	XP_011516445.1:p.Asn345Lys
XM_011518145.2:c.894C>G	XP_011516447.1:p.Asn298Lys
XM_017014205.2:c.153C>G	XP_016869694.1:p.Asn51Lys
XM_024447380.1:c.153C>G	XP_024303148.1:p.Asn51Lys
XM_024447381.1:c.459C>G	XP_024303149.1:p.Asn153Lys
XM_024447382.1:c.153C>G	XP_024303150.1:p.Asn51Lys
XR_001746160.2:n.1454C>G
XR_001746162.2:n.1520C>G
XR_001746164.1:n.1237C>G
XR_001746166.2:n.1671C>G
NM_001077365.2:c.1284C>G MANE Select	NP_001070833.1:p.Asn428Lys
NM_001077366.2:c.1122C>G	NP_001070834.1:p.Asn374Lys
NM_001136113.2:c.1284C>G	NP_001129585.1:p.Asn428Lys
NM_001136114.2:c.933C>G	NP_001129586.1:p.Asn311Lys
NM_001353193.2:c.1350C>G	NP_001340122.2:p.Asn450Lys
NM_001353194.2:c.1122C>G	NP_001340123.1:p.Asn374Lys
NM_001353195.2:c.933C>G	NP_001340124.1:p.Asn311Lys
NM_001353196.2:c.1194C>G	NP_001340125.1:p.Asn398Lys
NM_001353197.2:c.1188C>G	NP_001340126.2:p.Asn396Lys
NM_001353198.2:c.1188C>G	NP_001340127.2:p.Asn396Lys
NM_001353199.2:c.999C>G	NP_001340128.2:p.Asn333Lys
NM_001353200.2:c.828C>G	NP_001340129.1:p.Asn276Lys
NM_001374689.1:c.1272C>G	NP_001361618.1:p.Asn424Lys
NM_001374690.1:c.1284C>G	NP_001361619.1:p.Asn428Lys
NM_001374691.1:c.933C>G	NP_001361620.1:p.Asn311Lys
NM_001374692.1:c.933C>G	NP_001361621.1:p.Asn311Lys
NM_001374693.1:c.933C>G	NP_001361622.1:p.Asn311Lys
NM_001374695.1:c.894C>G	NP_001361624.1:p.Asn298Lys
NM_007171.4:c.1350C>G	NP_009102.4:p.Asn450Lys
NR_148391.2:n.1318C>G
NR_148392.2:n.1536C>G
NR_148393.2:n.1318C>G
NR_148394.2:n.1211C>G
NR_148395.2:n.1470C>G
NR_148396.2:n.1104C>G
NR_148397.2:n.1368C>G
NR_148398.2:n.1323C>G
NR_148399.2:n.1710C>G
NR_148400.2:n.1309C>G