Canonical Allele Identifier: CA375310073

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390873T>G (hg19) ; chr9:g.131515486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515486T>G , CM000671.2:g.131515486T>G	GRCh38
NC_000009.11:g.134390873T>G , CM000671.1:g.134390873T>G	GRCh37
NC_000009.10:g.133380694T>G	NCBI36
NG_008896.1:g.17585T>G
NG_008896.2:g.17585T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1074T>G	ENSP00000343034.7:p.Tyr358Ter
ENST00000404875.7:n.1776T>G
ENST00000423007.6:c.1293T>G	ENSP00000404119.2:p.Tyr431Ter
ENST00000677295.2:c.*1580T>G	ENSP00000504346.2:n.*1580T>G
ENST00000678264.2:c.*1419T>G	ENSP00000503157.2:n.*1419T>G
ENST00000682070.1:n.1701T>G
ENST00000682539.1:c.61T>G
ENST00000682813.1:n.1501T>G
ENST00000683392.1:n.3983T>G
ENST00000683712.1:n.1641T>G
ENST00000683900.1:n.3136T>G
ENST00000684062.1:n.1902T>G
ENST00000684579.1:n.3082T>G
ENST00000341012.12:c.1074T>G	ENSP00000343034.7:p.Tyr358Ter
ENST00000372220.5:c.105T>G	ENSP00000361294.5:p.Tyr35Ter
ENST00000372228.9:c.1302T>G	ENSP00000361302.3:p.Tyr434Ter
ENST00000402686.8:c.1236T>G MANE Select	ENSP00000385797.4:p.Tyr412Ter
ENST00000676640.1:c.1236T>G	ENSP00000503281.1:p.Tyr412Ter
ENST00000676803.1:c.411T>G	ENSP00000503093.1:p.Tyr137Ter
ENST00000676835.1:c.*451T>G	ENSP00000502911.1:n.*451T>G
ENST00000677029.1:c.780T>G	ENSP00000502936.1:p.Tyr260Ter
ENST00000677099.1:c.*946T>G	ENSP00000504553.1:n.*946T>G
ENST00000677216.1:c.885T>G	ENSP00000503772.1:p.Tyr295Ter
ENST00000677295.1:c.*613T>G	ENSP00000504346.1:n.*613T>G
ENST00000677444.1:c.1042T>G
ENST00000677586.1:n.717T>G
ENST00000677626.1:c.885T>G	ENSP00000503552.1:p.Tyr295Ter
ENST00000677677.1:n.1196T>G
ENST00000677853.1:c.*244T>G	ENSP00000503488.1:n.*244T>G
ENST00000677944.1:c.498T>G
ENST00000678264.1:c.*613T>G	ENSP00000503157.1:n.*613T>G
ENST00000678303.1:c.1146T>G	ENSP00000503696.1:p.Tyr382Ter
ENST00000678366.1:c.*1485T>G	ENSP00000504353.1:n.*1485T>G
ENST00000678546.1:c.*1181T>G	ENSP00000503062.1:n.*1181T>G
ENST00000678548.1:c.*1308T>G	ENSP00000503934.1:n.*1308T>G
ENST00000678626.1:n.933T>G
ENST00000678733.1:c.317T>G
ENST00000678739.1:c.*1562T>G	ENSP00000503806.1:n.*1562T>G
ENST00000678795.1:n.323T>G
ENST00000678833.1:c.*683T>G	ENSP00000503893.1:n.*683T>G
ENST00000678942.1:c.416T>G	ENSP00000504690.1:n.416T>G
ENST00000679023.1:c.1074T>G	ENSP00000503718.1:p.Tyr358Ter
ENST00000679076.1:c.855T>G
ENST00000679111.1:c.1236T>G	ENSP00000504257.1:p.Tyr412Ter
ENST00000679189.1:c.885T>G	ENSP00000503356.1:p.Tyr295Ter
ENST00000341012.11:c.1074T>G	ENSP00000343034.7:p.Tyr358Ter
ENST00000372228.7:c.1302T>G	ENSP00000361302.3:p.Tyr434Ter
ENST00000402686.7:c.1236T>G	ENSP00000385797.3:p.Tyr412Ter
ENST00000404875.6:c.885T>G	ENSP00000384531.2:p.Tyr295Ter
ENST00000423007.5:c.1236T>G	ENSP00000404119.1:p.Tyr412Ter
ENST00000485278.5:n.1791T>G
NM_001077365.1:c.1236T>G	NP_001070833.1:p.Tyr412Ter
NM_001077366.1:c.1074T>G	NP_001070834.1:p.Tyr358Ter
NM_001136113.1:c.1236T>G	NP_001129585.1:p.Tyr412Ter
NM_001136114.1:c.885T>G	NP_001129586.1:p.Tyr295Ter
NM_007171.3:c.1302T>G	NP_009102.3:p.Tyr434Ter
XM_005272156.1:c.1302T>G	XP_005272213.1:p.Tyr434Ter
XM_005272158.1:c.1140T>G	XP_005272215.1:p.Tyr380Ter
XM_005272159.1:c.951T>G	XP_005272216.1:p.Tyr317Ter
XM_005272162.1:c.105T>G	XP_005272219.1:p.Tyr35Ter
XM_006716932.1:c.951T>G	XP_006716995.1:p.Tyr317Ter
XM_011518140.1:c.1155T>G	XP_011516442.1:p.Tyr385Ter
XM_011518141.1:c.1089T>G	XP_011516443.1:p.Tyr363Ter
XM_011518142.1:c.993T>G	XP_011516444.1:p.Tyr331Ter
XM_011518143.1:c.987T>G	XP_011516445.1:p.Tyr329Ter
XM_011518144.1:c.1302T>G	XP_011516446.1:p.Tyr434Ter
XM_011518145.1:c.846T>G	XP_011516447.1:p.Tyr282Ter
XM_011518146.1:c.987T>G	XP_011516448.1:p.Tyr329Ter
XR_929703.1:n.1478T>G
NM_001353193.1:c.1302T>G	NP_001340122.1:p.Tyr434Ter
NM_001353194.1:c.1074T>G	NP_001340123.1:p.Tyr358Ter
NM_001353195.1:c.885T>G	NP_001340124.1:p.Tyr295Ter
NM_001353196.1:c.1146T>G	NP_001340125.1:p.Tyr382Ter
NM_001353197.1:c.1140T>G	NP_001340126.1:p.Tyr380Ter
NM_001353198.1:c.1140T>G	NP_001340127.1:p.Tyr380Ter
NM_001353199.1:c.951T>G	NP_001340128.1:p.Tyr317Ter
NM_001353200.1:c.780T>G	NP_001340129.1:p.Tyr260Ter
NR_148391.1:n.1286T>G
NR_148392.1:n.1504T>G
NR_148393.1:n.1286T>G
NR_148394.1:n.1179T>G
NR_148395.1:n.1438T>G
NR_148396.1:n.1072T>G
NR_148397.1:n.1336T>G
NR_148398.1:n.1291T>G
NR_148399.1:n.1678T>G
NR_148400.1:n.1277T>G
XM_005272162.3:c.105T>G	XP_005272219.1:p.Tyr35Ter
XM_006716932.2:c.951T>G	XP_006716995.1:p.Tyr317Ter
XM_011518140.2:c.1155T>G	XP_011516442.1:p.Tyr385Ter
XM_011518141.2:c.1089T>G	XP_011516443.1:p.Tyr363Ter
XM_011518142.2:c.993T>G	XP_011516444.1:p.Tyr331Ter
XM_011518143.2:c.987T>G	XP_011516445.1:p.Tyr329Ter
XM_011518145.2:c.846T>G	XP_011516447.1:p.Tyr282Ter
XM_017014205.2:c.105T>G	XP_016869694.1:p.Tyr35Ter
XM_024447380.1:c.105T>G	XP_024303148.1:p.Tyr35Ter
XM_024447381.1:c.411T>G	XP_024303149.1:p.Tyr137Ter
XM_024447382.1:c.105T>G	XP_024303150.1:p.Tyr35Ter
XR_001746160.2:n.1406T>G
XR_001746162.2:n.1472T>G
XR_001746164.1:n.1189T>G
XR_001746166.2:n.1623T>G
NM_001077365.2:c.1236T>G MANE Select	NP_001070833.1:p.Tyr412Ter
NM_001077366.2:c.1074T>G	NP_001070834.1:p.Tyr358Ter
NM_001136113.2:c.1236T>G	NP_001129585.1:p.Tyr412Ter
NM_001136114.2:c.885T>G	NP_001129586.1:p.Tyr295Ter
NM_001353193.2:c.1302T>G	NP_001340122.2:p.Tyr434Ter
NM_001353194.2:c.1074T>G	NP_001340123.1:p.Tyr358Ter
NM_001353195.2:c.885T>G	NP_001340124.1:p.Tyr295Ter
NM_001353196.2:c.1146T>G	NP_001340125.1:p.Tyr382Ter
NM_001353197.2:c.1140T>G	NP_001340126.2:p.Tyr380Ter
NM_001353198.2:c.1140T>G	NP_001340127.2:p.Tyr380Ter
NM_001353199.2:c.951T>G	NP_001340128.2:p.Tyr317Ter
NM_001353200.2:c.780T>G	NP_001340129.1:p.Tyr260Ter
NM_001374689.1:c.1224T>G	NP_001361618.1:p.Tyr408Ter
NM_001374690.1:c.1236T>G	NP_001361619.1:p.Tyr412Ter
NM_001374691.1:c.885T>G	NP_001361620.1:p.Tyr295Ter
NM_001374692.1:c.885T>G	NP_001361621.1:p.Tyr295Ter
NM_001374693.1:c.885T>G	NP_001361622.1:p.Tyr295Ter
NM_001374695.1:c.846T>G	NP_001361624.1:p.Tyr282Ter
NM_007171.4:c.1302T>G	NP_009102.4:p.Tyr434Ter
NR_148391.2:n.1270T>G
NR_148392.2:n.1488T>G
NR_148393.2:n.1270T>G
NR_148394.2:n.1163T>G
NR_148395.2:n.1422T>G
NR_148396.2:n.1056T>G
NR_148397.2:n.1320T>G
NR_148398.2:n.1275T>G
NR_148399.2:n.1662T>G
NR_148400.2:n.1261T>G