Canonical Allele Identifier: CA405687921

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071103G>C (hg19) ; chr19:g.38580463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580463G>C , CM000681.2:g.38580463G>C	GRCh38
NC_000019.9:g.39071103G>C , CM000681.1:g.39071103G>C	GRCh37
NC_000019.8:g.43762943G>C	NCBI36
NG_008866.1:g.151764G>C , LRG_766:g.151764G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1541G>C
ENST00000688602.1:c.2938G>C
ENST00000689936.1:c.2910G>C
ENST00000359596.8:c.14605G>C MANE Select	ENSP00000352608.2:p.Asp4869His
ENST00000355481.8:c.14590G>C	ENSP00000347667.3:p.Asp4864His
ENST00000359596.7:c.14605G>C	ENSP00000352608.2:p.Asp4869His
ENST00000360985.7:c.14587G>C	ENSP00000354254.4:p.Asp4863His
NM_000540.2:c.14605G>C , LRG_766t1:c.14605G>C	NP_000531.2:p.Asp4869His
NM_001042723.1:c.14590G>C	NP_001036188.1:p.Asp4864His
XM_006723317.1:c.14587G>C	XP_006723380.1:p.Asp4863His
XM_006723319.1:c.14572G>C	XP_006723382.1:p.Asp4858His
XM_011527204.1:c.14602G>C	XP_011525506.1:p.Asp4868His
XM_011527205.1:c.14518G>C	XP_011525507.1:p.Asp4840His
XM_006723317.2:c.14587G>C	XP_006723380.1:p.Asp4863His
XM_006723319.2:c.14572G>C	XP_006723382.1:p.Asp4858His
XM_011527205.2:c.14518G>C	XP_011525507.1:p.Asp4840His
NM_000540.3:c.14605G>C MANE Select	NP_000531.2:p.Asp4869His
NM_001042723.2:c.14590G>C	NP_001036188.1:p.Asp4864His