Canonical Allele Identifier: CA405687700

Gene: RYR1

Linked Data

• dbSNP Id: rs1447246862
• gnomAD v4: 19-38580418-G-A
• COSMIC: COSM5056611
• MyVariant Identifiers: chr19:g.39071058G>A (hg19) ; chr19:g.38580418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580418G>A , CM000681.2:g.38580418G>A	GRCh38
NC_000019.9:g.39071058G>A , CM000681.1:g.39071058G>A	GRCh37
NC_000019.8:g.43762898G>A	NCBI36
NG_008866.1:g.151719G>A , LRG_766:g.151719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1496G>A
ENST00000688602.1:c.2893G>A
ENST00000689936.1:c.2865G>A
ENST00000359596.8:c.14560G>A MANE Select	ENSP00000352608.2:p.Val4854Met
ENST00000355481.8:c.14545G>A	ENSP00000347667.3:p.Val4849Met
ENST00000359596.7:c.14560G>A	ENSP00000352608.2:p.Val4854Met
ENST00000360985.7:c.14542G>A	ENSP00000354254.4:p.Val4848Met
NM_000540.2:c.14560G>A , LRG_766t1:c.14560G>A	NP_000531.2:p.Val4854Met
NM_001042723.1:c.14545G>A	NP_001036188.1:p.Val4849Met
XM_006723317.1:c.14542G>A	XP_006723380.1:p.Val4848Met
XM_006723319.1:c.14527G>A	XP_006723382.1:p.Val4843Met
XM_011527204.1:c.14557G>A	XP_011525506.1:p.Val4853Met
XM_011527205.1:c.14473G>A	XP_011525507.1:p.Val4825Met
XM_006723317.2:c.14542G>A	XP_006723380.1:p.Val4848Met
XM_006723319.2:c.14527G>A	XP_006723382.1:p.Val4843Met
XM_011527205.2:c.14473G>A	XP_011525507.1:p.Val4825Met
NM_000540.3:c.14560G>A MANE Select	NP_000531.2:p.Val4854Met
NM_001042723.2:c.14545G>A	NP_001036188.1:p.Val4849Met