Canonical Allele Identifier: CA405656377

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39026639T>A (hg19) ; chr19:g.38535999T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.11519T>A MANE Select	ENSP00000352608.2:p.Val3840Asp
ENST00000355481.8:c.11504T>A	ENSP00000347667.3:p.Val3835Asp
ENST00000359596.7:c.11519T>A	ENSP00000352608.2:p.Val3840Asp
ENST00000360985.7:c.11501T>A	ENSP00000354254.4:p.Val3834Asp
ENST00000593322.1:c.217+607T>A
ENST00000594335.5:c.4906T>A
ENST00000596431.5:c.248T>A	ENSP00000470848.1:p.Val83Asp
ENST00000601514.5:c.800T>A	ENSP00000472497.1:p.Val267Asp
NM_000540.2:c.11519T>A , LRG_766t1:c.11519T>A	NP_000531.2:p.Val3840Asp
NM_001042723.1:c.11504T>A	NP_001036188.1:p.Val3835Asp
XM_006723317.1:c.11519T>A	XP_006723380.1:p.Val3840Asp
XM_006723319.1:c.11504T>A	XP_006723382.1:p.Val3835Asp
XM_011527204.1:c.11516T>A	XP_011525506.1:p.Val3839Asp
XM_011527205.1:c.11519T>A	XP_011525507.1:p.Val3840Asp
XM_006723317.2:c.11519T>A	XP_006723380.1:p.Val3840Asp
XM_006723319.2:c.11504T>A	XP_006723382.1:p.Val3835Asp
XM_011527205.2:c.11519T>A	XP_011525507.1:p.Val3840Asp
NM_000540.3:c.11519T>A MANE Select	NP_000531.2:p.Val3840Asp
NM_001042723.2:c.11504T>A	NP_001036188.1:p.Val3835Asp