Canonical Allele Identifier: CA2335092249

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579993C= , CM000681.2:g.38579993C=	GRCh38
NC_000019.9:g.39070633C= , CM000681.1:g.39070633C=	GRCh37
NC_000019.8:g.43762473C=	NCBI36
NG_008866.1:g.151294C= , LRG_766:g.151294C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1312C=
ENST00000688602.1:c.2709C=
ENST00000689936.1:c.2681C=
ENST00000359596.8:c.14376C= MANE Select	ENSP00000352608.2:p.Tyr4792=
ENST00000355481.8:c.14361C=	ENSP00000347667.3:p.Tyr4787=
ENST00000359596.7:c.14376C=	ENSP00000352608.2:p.Tyr4792=
ENST00000360985.7:c.14358C=	ENSP00000354254.4:p.Tyr4786=
NM_000540.2:c.14376C= , LRG_766t1:c.14376C=	NP_000531.2:p.Tyr4792=
NM_001042723.1:c.14361C=	NP_001036188.1:p.Tyr4787=
XM_006723317.1:c.14358C=	XP_006723380.1:p.Tyr4786=
XM_006723319.1:c.14343C=	XP_006723382.1:p.Tyr4781=
XM_011527204.1:c.14373C=	XP_011525506.1:p.Tyr4791=
XM_011527205.1:c.14289C=	XP_011525507.1:p.Tyr4763=
XM_006723317.2:c.14358C=	XP_006723380.1:p.Tyr4786=
XM_006723319.2:c.14343C=	XP_006723382.1:p.Tyr4781=
XM_011527205.2:c.14289C=	XP_011525507.1:p.Tyr4763=
NM_000540.3:c.14376C= MANE Select	NP_000531.2:p.Tyr4792=
NM_001042723.2:c.14361C=	NP_001036188.1:p.Tyr4787=