Canonical Allele Identifier: CA467423423

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393843C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1122C>T	ENSP00000343034.7:p.Asn374=
ENST00000404875.7:n.1824C>T
ENST00000423007.6:c.1341C>T	ENSP00000404119.2:p.Asn447=
ENST00000677295.2:c.*1628C>T	ENSP00000504346.2:n.*1628C>T
ENST00000678264.2:c.*1467C>T	ENSP00000503157.2:n.*1467C>T
ENST00000682070.1:n.1749C>T
ENST00000682535.1:n.56C>T
ENST00000682539.1:c.222C>T
ENST00000682813.1:n.1549C>T
ENST00000683110.1:n.12C>T
ENST00000683392.1:n.4031C>T
ENST00000683712.1:n.1689C>T
ENST00000683900.1:n.3184C>T
ENST00000684062.1:n.1950C>T
ENST00000684579.1:n.3130C>T
ENST00000684679.1:n.511C>T
ENST00000341012.12:c.1122C>T	ENSP00000343034.7:p.Asn374=
ENST00000372220.5:c.153C>T	ENSP00000361294.5:p.Asn51=
ENST00000372228.9:c.1350C>T	ENSP00000361302.3:p.Asn450=
ENST00000402686.8:c.1284C>T MANE Select	ENSP00000385797.4:p.Asn428=
ENST00000676640.1:c.1284C>T	ENSP00000503281.1:p.Asn428=
ENST00000676803.1:c.459C>T	ENSP00000503093.1:p.Asn153=
ENST00000676835.1:c.*499C>T	ENSP00000502911.1:n.*499C>T
ENST00000677029.1:c.828C>T	ENSP00000502936.1:p.Asn276=
ENST00000677099.1:c.*994C>T	ENSP00000504553.1:n.*994C>T
ENST00000677216.1:c.933C>T	ENSP00000503772.1:p.Asn311=
ENST00000677221.1:n.309C>T
ENST00000677295.1:c.*661C>T	ENSP00000504346.1:n.*661C>T
ENST00000677444.1:c.1090C>T
ENST00000677586.1:n.765C>T
ENST00000677626.1:c.933C>T	ENSP00000503552.1:p.Asn311=
ENST00000677677.1:n.1244C>T
ENST00000677853.1:c.*292C>T	ENSP00000503488.1:n.*292C>T
ENST00000677944.1:c.546C>T
ENST00000677983.1:n.373C>T
ENST00000678202.1:n.304C>T
ENST00000678264.1:c.*661C>T	ENSP00000503157.1:n.*661C>T
ENST00000678303.1:c.1194C>T	ENSP00000503696.1:p.Asn398=
ENST00000678366.1:c.*1533C>T	ENSP00000504353.1:n.*1533C>T
ENST00000678546.1:c.*1229C>T	ENSP00000503062.1:n.*1229C>T
ENST00000678548.1:c.*1356C>T	ENSP00000503934.1:n.*1356C>T
ENST00000678626.1:n.981C>T
ENST00000678733.1:c.365C>T
ENST00000678739.1:c.*1610C>T	ENSP00000503806.1:n.*1610C>T
ENST00000678795.1:n.371C>T
ENST00000678833.1:c.*731C>T	ENSP00000503893.1:n.*731C>T
ENST00000678942.1:c.464C>T	ENSP00000504690.1:n.464C>T
ENST00000679023.1:c.1122C>T	ENSP00000503718.1:p.Asn374=
ENST00000679076.1:c.903C>T
ENST00000679111.1:c.1284C>T	ENSP00000504257.1:p.Asn428=
ENST00000679189.1:c.933C>T	ENSP00000503356.1:p.Asn311=
ENST00000341012.11:c.1122C>T	ENSP00000343034.7:p.Asn374=
ENST00000372220.4:c.147C>T	ENSP00000361294.4:p.Asn49=
ENST00000372228.7:c.1350C>T	ENSP00000361302.3:p.Asn450=
ENST00000402686.7:c.1284C>T	ENSP00000385797.3:p.Asn428=
ENST00000404875.6:c.933C>T	ENSP00000384531.2:p.Asn311=
ENST00000423007.5:c.1284C>T	ENSP00000404119.1:p.Asn428=
ENST00000485278.5:n.1839C>T
NM_001077365.1:c.1284C>T	NP_001070833.1:p.Asn428=
NM_001077366.1:c.1122C>T	NP_001070834.1:p.Asn374=
NM_001136113.1:c.1284C>T	NP_001129585.1:p.Asn428=
NM_001136114.1:c.933C>T	NP_001129586.1:p.Asn311=
NM_007171.3:c.1350C>T	NP_009102.3:p.Asn450=
XM_005272156.1:c.1350C>T	XP_005272213.1:p.Asn450=
XM_005272158.1:c.1188C>T	XP_005272215.1:p.Asn396=
XM_005272159.1:c.999C>T	XP_005272216.1:p.Asn333=
XM_005272162.1:c.153C>T	XP_005272219.1:p.Asn51=
XM_006716932.1:c.999C>T	XP_006716995.1:p.Asn333=
XM_011518140.1:c.1203C>T	XP_011516442.1:p.Asn401=
XM_011518141.1:c.1137C>T	XP_011516443.1:p.Asn379=
XM_011518142.1:c.1041C>T	XP_011516444.1:p.Asn347=
XM_011518143.1:c.1035C>T	XP_011516445.1:p.Asn345=
XM_011518144.1:c.1350C>T	XP_011516446.1:p.Asn450=
XM_011518145.1:c.894C>T	XP_011516447.1:p.Asn298=
XM_011518146.1:c.1035C>T	XP_011516448.1:p.Asn345=
XM_011518147.1:c.222C>T	XP_011516449.1:p.Asn74=
XR_929703.1:n.1526C>T
NM_001353193.1:c.1350C>T	NP_001340122.1:p.Asn450=
NM_001353194.1:c.1122C>T	NP_001340123.1:p.Asn374=
NM_001353195.1:c.933C>T	NP_001340124.1:p.Asn311=
NM_001353196.1:c.1194C>T	NP_001340125.1:p.Asn398=
NM_001353197.1:c.1188C>T	NP_001340126.1:p.Asn396=
NM_001353198.1:c.1188C>T	NP_001340127.1:p.Asn396=
NM_001353199.1:c.999C>T	NP_001340128.1:p.Asn333=
NM_001353200.1:c.828C>T	NP_001340129.1:p.Asn276=
NR_148391.1:n.1334C>T
NR_148392.1:n.1552C>T
NR_148393.1:n.1334C>T
NR_148394.1:n.1227C>T
NR_148395.1:n.1486C>T
NR_148396.1:n.1120C>T
NR_148397.1:n.1384C>T
NR_148398.1:n.1339C>T
NR_148399.1:n.1726C>T
NR_148400.1:n.1325C>T
XM_005272162.3:c.153C>T	XP_005272219.1:p.Asn51=
XM_006716932.2:c.999C>T	XP_006716995.1:p.Asn333=
XM_011518140.2:c.1203C>T	XP_011516442.1:p.Asn401=
XM_011518141.2:c.1137C>T	XP_011516443.1:p.Asn379=
XM_011518142.2:c.1041C>T	XP_011516444.1:p.Asn347=
XM_011518143.2:c.1035C>T	XP_011516445.1:p.Asn345=
XM_011518145.2:c.894C>T	XP_011516447.1:p.Asn298=
XM_017014205.2:c.153C>T	XP_016869694.1:p.Asn51=
XM_024447380.1:c.153C>T	XP_024303148.1:p.Asn51=
XM_024447381.1:c.459C>T	XP_024303149.1:p.Asn153=
XM_024447382.1:c.153C>T	XP_024303150.1:p.Asn51=
XR_001746160.2:n.1454C>T
XR_001746162.2:n.1520C>T
XR_001746164.1:n.1237C>T
XR_001746166.2:n.1671C>T
NM_001077365.2:c.1284C>T MANE Select	NP_001070833.1:p.Asn428=
NM_001077366.2:c.1122C>T	NP_001070834.1:p.Asn374=
NM_001136113.2:c.1284C>T	NP_001129585.1:p.Asn428=
NM_001136114.2:c.933C>T	NP_001129586.1:p.Asn311=
NM_001353193.2:c.1350C>T	NP_001340122.2:p.Asn450=
NM_001353194.2:c.1122C>T	NP_001340123.1:p.Asn374=
NM_001353195.2:c.933C>T	NP_001340124.1:p.Asn311=
NM_001353196.2:c.1194C>T	NP_001340125.1:p.Asn398=
NM_001353197.2:c.1188C>T	NP_001340126.2:p.Asn396=
NM_001353198.2:c.1188C>T	NP_001340127.2:p.Asn396=
NM_001353199.2:c.999C>T	NP_001340128.2:p.Asn333=
NM_001353200.2:c.828C>T	NP_001340129.1:p.Asn276=
NM_001374689.1:c.1272C>T	NP_001361618.1:p.Asn424=
NM_001374690.1:c.1284C>T	NP_001361619.1:p.Asn428=
NM_001374691.1:c.933C>T	NP_001361620.1:p.Asn311=
NM_001374692.1:c.933C>T	NP_001361621.1:p.Asn311=
NM_001374693.1:c.933C>T	NP_001361622.1:p.Asn311=
NM_001374695.1:c.894C>T	NP_001361624.1:p.Asn298=
NM_007171.4:c.1350C>T	NP_009102.4:p.Asn450=
NR_148391.2:n.1318C>T
NR_148392.2:n.1536C>T
NR_148393.2:n.1318C>T
NR_148394.2:n.1211C>T
NR_148395.2:n.1470C>T
NR_148396.2:n.1104C>T
NR_148397.2:n.1368C>T
NR_148398.2:n.1323C>T
NR_148399.2:n.1710C>T
NR_148400.2:n.1309C>T