Canonical Allele Identifier: CA308086253

Gene: RYR1

Linked Data

• dbSNP Id: rs957055761
• gnomAD v4: 19-38535999-T-C
• MyVariant Identifiers: chr19:g.39026639T>C (hg19) ; chr19:g.38535999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535999T>C , CM000681.2:g.38535999T>C	GRCh38
NC_000019.9:g.39026639T>C , CM000681.1:g.39026639T>C	GRCh37
NC_000019.8:g.43718479T>C	NCBI36
NG_008866.1:g.107300T>C , LRG_766:g.107300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.11519T>C MANE Select	ENSP00000352608.2:p.Val3840Ala
ENST00000355481.8:c.11504T>C	ENSP00000347667.3:p.Val3835Ala
ENST00000359596.7:c.11519T>C	ENSP00000352608.2:p.Val3840Ala
ENST00000360985.7:c.11501T>C	ENSP00000354254.4:p.Val3834Ala
ENST00000593322.1:c.217+607T>C
ENST00000594335.5:c.4906T>C
ENST00000596431.5:c.248T>C	ENSP00000470848.1:p.Val83Ala
ENST00000601514.5:c.800T>C	ENSP00000472497.1:p.Val267Ala
NM_000540.2:c.11519T>C , LRG_766t1:c.11519T>C	NP_000531.2:p.Val3840Ala
NM_001042723.1:c.11504T>C	NP_001036188.1:p.Val3835Ala
XM_006723317.1:c.11519T>C	XP_006723380.1:p.Val3840Ala
XM_006723319.1:c.11504T>C	XP_006723382.1:p.Val3835Ala
XM_011527204.1:c.11516T>C	XP_011525506.1:p.Val3839Ala
XM_011527205.1:c.11519T>C	XP_011525507.1:p.Val3840Ala
XM_006723317.2:c.11519T>C	XP_006723380.1:p.Val3840Ala
XM_006723319.2:c.11504T>C	XP_006723382.1:p.Val3835Ala
XM_011527205.2:c.11519T>C	XP_011525507.1:p.Val3840Ala
NM_000540.3:c.11519T>C MANE Select	NP_000531.2:p.Val3840Ala
NM_001042723.2:c.11504T>C	NP_001036188.1:p.Val3835Ala