Canonical Allele Identifier: CA22874824

Gene: MYSM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58685239G>A , CM000663.2:g.58685239G>A	GRCh38
NC_000001.10:g.59150911G>A , CM000663.1:g.59150911G>A	GRCh37
NC_000001.9:g.58923499G>A	NCBI36
NG_065323.1:g.19853C>T
NG_065323.2:g.19839C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001085487.3:c.412C>T MANE Select	NP_001078956.1:p.Arg138Ter
ENST00000472487.6:c.412C>T MANE Select	ENSP00000418734.1:p.Arg138Ter
NM_001085487.2:c.412C>T	NP_001078956.1:p.Arg138Ter
ENST00000401044.7:n.171C>T
ENST00000466774.5:n.337C>T
ENST00000472487.5:c.412C>T	ENSP00000418734.1:p.Arg138Ter
ENST00000493821.5:n.461C>T
ENST00000493821.6:n.461C>T
ENST00000655340.1:c.412C>T	ENSP00000499373.1:p.Arg138Ter
ENST00000659108.1:c.309C>T	ENSP00000499571.1:p.Ala103=
ENST00000659812.1:c.359C>T
ENST00000659812.2:c.412C>T	ENSP00000499686.2:p.Arg138Ter
ENST00000660611.1:n.361C>T
ENST00000665648.1:c.412C>T	ENSP00000499586.1:p.Arg138Ter
ENST00000697253.1:c.333C>T	ENSP00000513210.1:p.Ala111=
ENST00000697254.1:c.333C>T	ENSP00000513211.1:p.Ala111=
ENST00000697255.1:c.388C>T	ENSP00000513212.1:p.Arg130Ter
ENST00000697257.1:n.1531C>T
ENST00000697258.1:n.916C>T
ENST00000697261.1:n.428C>T
ENST00000697262.1:n.1357C>T
ENST00000697263.1:n.432C>T
XM_006710314.2:c.412C>T	XP_006710377.1:p.Arg138Ter
XM_006710314.3:c.412C>T	XP_006710377.1:p.Arg138Ter
XM_011540573.1:c.211C>T	XP_011538875.1:p.Arg71Ter
XM_011540573.3:c.211C>T	XP_011538875.1:p.Arg71Ter
XM_011540574.1:c.145C>T	XP_011538876.1:p.Arg49Ter
XM_011540574.2:c.145C>T	XP_011538876.1:p.Arg49Ter
XR_246231.3:n.452C>T
XR_246231.4:n.451C>T
XR_946533.1:n.452C>T
XR_946533.2:n.451C>T