Canonical Allele Identifier: CA2335095496

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585953C= , CM000681.2:g.38585953C=	GRCh38
NC_000019.9:g.39076593C= , CM000681.1:g.39076593C=	GRCh37
NC_000019.8:g.43768433C=	NCBI36
NG_008866.1:g.157254C= , LRG_766:g.157254C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1755C=
ENST00000688602.1:c.3152C=
ENST00000689936.1:c.3124C=
ENST00000692547.1:n.212C=
ENST00000359596.8:c.14819C= MANE Select	ENSP00000352608.2:p.Ala4940=
ENST00000355481.8:c.14804C=	ENSP00000347667.3:p.Ala4935=
ENST00000359596.7:c.14819C=	ENSP00000352608.2:p.Ala4940=
ENST00000360985.7:c.14801C=	ENSP00000354254.4:p.Ala4934=
NM_000540.2:c.14819C= , LRG_766t1:c.14819C=	NP_000531.2:p.Ala4940=
NM_001042723.1:c.14804C=	NP_001036188.1:p.Ala4935=
XM_006723317.1:c.14801C=	XP_006723380.1:p.Ala4934=
XM_006723319.1:c.14786C=	XP_006723382.1:p.Ala4929=
XM_011527204.1:c.14816C=	XP_011525506.1:p.Ala4939=
XM_011527205.1:c.14732C=	XP_011525507.1:p.Ala4911=
XM_006723317.2:c.14801C=	XP_006723380.1:p.Ala4934=
XM_006723319.2:c.14786C=	XP_006723382.1:p.Ala4929=
XM_011527205.2:c.14732C=	XP_011525507.1:p.Ala4911=
NM_000540.3:c.14819C= MANE Select	NP_000531.2:p.Ala4940=
NM_001042723.2:c.14804C=	NP_001036188.1:p.Ala4935=