Canonical Allele Identifier: CA877615

Gene: MYSM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58665639G>T , CM000663.2:g.58665639G>T	GRCh38
NC_000001.10:g.59131311G>T , CM000663.1:g.59131311G>T	GRCh37
NC_000001.9:g.58903899G>T	NCBI36
NG_065323.1:g.39453C>A
NG_065323.2:g.39439C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000659812.2:c.2029-8C>A	ENSP00000499686.2:n.2029-8C>A
ENST00000697250.1:n.1655-8C>A
ENST00000697251.1:n.573-8C>A
ENST00000697252.1:n.1150-8C>A
ENST00000697253.1:c.1984-8C>A	ENSP00000513210.1:n.1984-8C>A
ENST00000697254.1:c.*1679-8C>A	ENSP00000513211.1:n.*1679-8C>A
ENST00000697255.1:c.2008-8C>A	ENSP00000513212.1:n.2008-8C>A
ENST00000697257.1:n.4037-4128C>A
ENST00000697258.1:n.2346+2208C>A
ENST00000472487.6:c.2032-8C>A MANE Select	ENSP00000418734.1:n.2032-8C>A
ENST00000493821.6:n.2081-8C>A
ENST00000655340.1:c.2032-8C>A	ENSP00000499373.1:n.2032-8C>A
ENST00000659108.1:c.*1679-8C>A	ENSP00000499571.1:n.*1679-8C>A
ENST00000659812.1:c.1976-8C>A
ENST00000660611.1:n.2067-8C>A
ENST00000665648.1:c.*396-8C>A	ENSP00000499586.1:n.*396-8C>A
ENST00000401044.7:n.1877-8C>A
ENST00000472487.5:c.2032-8C>A	ENSP00000418734.1:n.2032-8C>A
ENST00000493821.5:n.2081-8C>A
ENST00000622766.1:c.250-8C>A	ENSP00000478391.1:n.250-8C>A
NM_001085487.2:c.2032-8C>A	NP_001078956.1:n.2032-8C>A
XM_006710314.2:c.2032-8C>A	XP_006710377.1:n.2032-8C>A
XM_011540573.1:c.1831-8C>A	XP_011538875.1:n.1831-8C>A
XM_011540574.1:c.1765-8C>A	XP_011538876.1:n.1765-8C>A
XR_246231.3:n.2158-8C>A
XR_946533.1:n.2072-8C>A
XM_006710314.3:c.2032-8C>A	XP_006710377.1:n.2032-8C>A
XM_011540573.3:c.1831-8C>A	XP_011538875.1:n.1831-8C>A
XM_011540574.2:c.1765-8C>A	XP_011538876.1:n.1765-8C>A
XR_246231.4:n.2157-8C>A
XR_946533.2:n.2071-8C>A
NM_001085487.3:c.2032-8C>A MANE Select	NP_001078956.1:n.2032-8C>A