Canonical Allele Identifier: CA10606029

Gene: POMT1

Linked Data

• ClinVar Variation Id: 288283
• ClinVar RCV Id: RCV000360608 ; RCV003765654
• dbSNP Id: rs886043851
• MyVariant Identifiers: chr9:g.134390837C>T (hg19) ; chr9:g.131515450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515450C>T , CM000671.2:g.131515450C>T	GRCh38
NC_000009.11:g.134390837C>T , CM000671.1:g.134390837C>T	GRCh37
NC_000009.10:g.133380658C>T	NCBI36
NG_008896.1:g.17549C>T
NG_008896.2:g.17549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1038C>T	ENSP00000343034.7:p.Ser346=
ENST00000404875.7:n.1740C>T
ENST00000423007.6:c.1257C>T	ENSP00000404119.2:p.Ser419=
ENST00000677295.2:c.*1544C>T	ENSP00000504346.2:n.*1544C>T
ENST00000678264.2:c.*1383C>T	ENSP00000503157.2:n.*1383C>T
ENST00000682070.1:n.1665C>T
ENST00000682539.1:c.25C>T
ENST00000682813.1:n.1465C>T
ENST00000683392.1:n.3947C>T
ENST00000683712.1:n.1605C>T
ENST00000683900.1:n.3100C>T
ENST00000684062.1:n.1866C>T
ENST00000684579.1:n.3046C>T
ENST00000341012.12:c.1038C>T	ENSP00000343034.7:p.Ser346=
ENST00000372220.5:c.69C>T	ENSP00000361294.5:p.Ser23=
ENST00000372228.9:c.1266C>T	ENSP00000361302.3:p.Ser422=
ENST00000402686.8:c.1200C>T MANE Select	ENSP00000385797.4:p.Ser400=
ENST00000676640.1:c.1200C>T	ENSP00000503281.1:p.Ser400=
ENST00000676803.1:c.375C>T	ENSP00000503093.1:p.Ser125=
ENST00000676835.1:c.*415C>T	ENSP00000502911.1:n.*415C>T
ENST00000677029.1:c.744C>T	ENSP00000502936.1:p.Ser248=
ENST00000677099.1:c.*910C>T	ENSP00000504553.1:n.*910C>T
ENST00000677216.1:c.849C>T	ENSP00000503772.1:p.Ser283=
ENST00000677293.1:c.375C>T	ENSP00000504278.1:p.Ser125=
ENST00000677295.1:c.*577C>T	ENSP00000504346.1:n.*577C>T
ENST00000677444.1:c.1006C>T
ENST00000677586.1:n.681C>T
ENST00000677626.1:c.849C>T	ENSP00000503552.1:p.Ser283=
ENST00000677677.1:n.1160C>T
ENST00000677853.1:c.*208C>T	ENSP00000503488.1:n.*208C>T
ENST00000677944.1:c.462C>T
ENST00000678264.1:c.*577C>T	ENSP00000503157.1:n.*577C>T
ENST00000678303.1:c.1110C>T	ENSP00000503696.1:p.Ser370=
ENST00000678366.1:c.*1449C>T	ENSP00000504353.1:n.*1449C>T
ENST00000678546.1:c.*1145C>T	ENSP00000503062.1:n.*1145C>T
ENST00000678548.1:c.*1272C>T	ENSP00000503934.1:n.*1272C>T
ENST00000678626.1:n.897C>T
ENST00000678733.1:c.281C>T
ENST00000678739.1:c.*1526C>T	ENSP00000503806.1:n.*1526C>T
ENST00000678795.1:n.287C>T
ENST00000678833.1:c.*647C>T	ENSP00000503893.1:n.*647C>T
ENST00000678942.1:c.380C>T	ENSP00000504690.1:n.380C>T
ENST00000679023.1:c.1038C>T	ENSP00000503718.1:p.Ser346=
ENST00000679076.1:c.819C>T
ENST00000679111.1:c.1200C>T	ENSP00000504257.1:p.Ser400=
ENST00000679189.1:c.849C>T	ENSP00000503356.1:p.Ser283=
ENST00000341012.11:c.1038C>T	ENSP00000343034.7:p.Ser346=
ENST00000372228.7:c.1266C>T	ENSP00000361302.3:p.Ser422=
ENST00000402686.7:c.1200C>T	ENSP00000385797.3:p.Ser400=
ENST00000404875.6:c.849C>T	ENSP00000384531.2:p.Ser283=
ENST00000423007.5:c.1200C>T	ENSP00000404119.1:p.Ser400=
ENST00000485278.5:n.1755C>T
NM_001077365.1:c.1200C>T	NP_001070833.1:p.Ser400=
NM_001077366.1:c.1038C>T	NP_001070834.1:p.Ser346=
NM_001136113.1:c.1200C>T	NP_001129585.1:p.Ser400=
NM_001136114.1:c.849C>T	NP_001129586.1:p.Ser283=
NM_007171.3:c.1266C>T	NP_009102.3:p.Ser422=
XM_005272156.1:c.1266C>T	XP_005272213.1:p.Ser422=
XM_005272158.1:c.1104C>T	XP_005272215.1:p.Ser368=
XM_005272159.1:c.915C>T	XP_005272216.1:p.Ser305=
XM_005272162.1:c.69C>T	XP_005272219.1:p.Ser23=
XM_006716932.1:c.915C>T	XP_006716995.1:p.Ser305=
XM_011518140.1:c.1119C>T	XP_011516442.1:p.Ser373=
XM_011518141.1:c.1053C>T	XP_011516443.1:p.Ser351=
XM_011518142.1:c.957C>T	XP_011516444.1:p.Ser319=
XM_011518143.1:c.951C>T	XP_011516445.1:p.Ser317=
XM_011518144.1:c.1266C>T	XP_011516446.1:p.Ser422=
XM_011518145.1:c.810C>T	XP_011516447.1:p.Ser270=
XM_011518146.1:c.951C>T	XP_011516448.1:p.Ser317=
XR_929703.1:n.1442C>T
NM_001353193.1:c.1266C>T	NP_001340122.1:p.Ser422=
NM_001353194.1:c.1038C>T	NP_001340123.1:p.Ser346=
NM_001353195.1:c.849C>T	NP_001340124.1:p.Ser283=
NM_001353196.1:c.1110C>T	NP_001340125.1:p.Ser370=
NM_001353197.1:c.1104C>T	NP_001340126.1:p.Ser368=
NM_001353198.1:c.1104C>T	NP_001340127.1:p.Ser368=
NM_001353199.1:c.915C>T	NP_001340128.1:p.Ser305=
NM_001353200.1:c.744C>T	NP_001340129.1:p.Ser248=
NR_148391.1:n.1250C>T
NR_148392.1:n.1468C>T
NR_148393.1:n.1250C>T
NR_148394.1:n.1143C>T
NR_148395.1:n.1402C>T
NR_148396.1:n.1036C>T
NR_148397.1:n.1300C>T
NR_148398.1:n.1255C>T
NR_148399.1:n.1642C>T
NR_148400.1:n.1241C>T
XM_005272162.3:c.69C>T	XP_005272219.1:p.Ser23=
XM_006716932.2:c.915C>T	XP_006716995.1:p.Ser305=
XM_011518140.2:c.1119C>T	XP_011516442.1:p.Ser373=
XM_011518141.2:c.1053C>T	XP_011516443.1:p.Ser351=
XM_011518142.2:c.957C>T	XP_011516444.1:p.Ser319=
XM_011518143.2:c.951C>T	XP_011516445.1:p.Ser317=
XM_011518145.2:c.810C>T	XP_011516447.1:p.Ser270=
XM_017014205.2:c.69C>T	XP_016869694.1:p.Ser23=
XM_024447380.1:c.69C>T	XP_024303148.1:p.Ser23=
XM_024447381.1:c.375C>T	XP_024303149.1:p.Ser125=
XM_024447382.1:c.69C>T	XP_024303150.1:p.Ser23=
XR_001746160.2:n.1370C>T
XR_001746162.2:n.1436C>T
XR_001746164.1:n.1153C>T
XR_001746166.2:n.1587C>T
NM_001077365.2:c.1200C>T MANE Select	NP_001070833.1:p.Ser400=
NM_001077366.2:c.1038C>T	NP_001070834.1:p.Ser346=
NM_001136113.2:c.1200C>T	NP_001129585.1:p.Ser400=
NM_001136114.2:c.849C>T	NP_001129586.1:p.Ser283=
NM_001353193.2:c.1266C>T	NP_001340122.2:p.Ser422=
NM_001353194.2:c.1038C>T	NP_001340123.1:p.Ser346=
NM_001353195.2:c.849C>T	NP_001340124.1:p.Ser283=
NM_001353196.2:c.1110C>T	NP_001340125.1:p.Ser370=
NM_001353197.2:c.1104C>T	NP_001340126.2:p.Ser368=
NM_001353198.2:c.1104C>T	NP_001340127.2:p.Ser368=
NM_001353199.2:c.915C>T	NP_001340128.2:p.Ser305=
NM_001353200.2:c.744C>T	NP_001340129.1:p.Ser248=
NM_001374689.1:c.1188C>T	NP_001361618.1:p.Ser396=
NM_001374690.1:c.1200C>T	NP_001361619.1:p.Ser400=
NM_001374691.1:c.849C>T	NP_001361620.1:p.Ser283=
NM_001374692.1:c.849C>T	NP_001361621.1:p.Ser283=
NM_001374693.1:c.849C>T	NP_001361622.1:p.Ser283=
NM_001374695.1:c.810C>T	NP_001361624.1:p.Ser270=
NM_007171.4:c.1266C>T	NP_009102.4:p.Ser422=
NR_148391.2:n.1234C>T
NR_148392.2:n.1452C>T
NR_148393.2:n.1234C>T
NR_148394.2:n.1127C>T
NR_148395.2:n.1386C>T
NR_148396.2:n.1020C>T
NR_148397.2:n.1284C>T
NR_148398.2:n.1239C>T
NR_148399.2:n.1626C>T
NR_148400.2:n.1225C>T