Canonical Allele Identifier: CA2335095021

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585122C= , CM000681.2:g.38585122C=	GRCh38
NC_000019.9:g.39075762C= , CM000681.1:g.39075762C=	GRCh37
NC_000019.8:g.43767602C=	NCBI36
NG_008866.1:g.156423C= , LRG_766:g.156423C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1739+23C=
ENST00000688602.1:c.3136+23C=
ENST00000689936.1:c.3108+23C=
ENST00000692547.1:n.196+23C=
ENST00000359596.8:c.14803+23C= MANE Select	ENSP00000352608.2:n.14803+23C=
ENST00000355481.8:c.14788+23C=	ENSP00000347667.3:n.14788+23C=
ENST00000359596.7:c.14803+23C=	ENSP00000352608.2:n.14803+23C=
ENST00000360985.7:c.14785+23C=	ENSP00000354254.4:n.14785+23C=
NM_000540.2:c.14803+23C= , LRG_766t1:c.14803+23C=	NP_000531.2:n.14803+23C=
NM_001042723.1:c.14788+23C=	NP_001036188.1:n.14788+23C=
XM_006723317.1:c.14785+23C=	XP_006723380.1:n.14785+23C=
XM_006723319.1:c.14770+23C=	XP_006723382.1:n.14770+23C=
XM_011527204.1:c.14800+23C=	XP_011525506.1:n.14800+23C=
XM_011527205.1:c.14716+23C=	XP_011525507.1:n.14716+23C=
XM_006723317.2:c.14785+23C=	XP_006723380.1:n.14785+23C=
XM_006723319.2:c.14770+23C=	XP_006723382.1:n.14770+23C=
XM_011527205.2:c.14716+23C=	XP_011525507.1:n.14716+23C=
NM_000540.3:c.14803+23C= MANE Select	NP_000531.2:n.14803+23C=
NM_001042723.2:c.14788+23C=	NP_001036188.1:n.14788+23C=