Canonical Allele Identifier: CA405672520

Gene: RYR1

Linked Data

• dbSNP Id: rs1212485396
• gnomAD v3: 19-38565236-C-T
• gnomAD v4: 19-38565236-C-T
• MyVariant Identifiers: chr19:g.39055876C>T (hg19) ; chr19:g.38565236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565236C>T , CM000681.2:g.38565236C>T	GRCh38
NC_000019.9:g.39055876C>T , CM000681.1:g.39055876C>T	GRCh37
NC_000019.8:g.43747716C>T	NCBI36
NG_008866.1:g.136537C>T , LRG_766:g.136537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1312C>T
ENST00000689936.1:c.1294C>T
ENST00000359596.8:c.12902C>T MANE Select	ENSP00000352608.2:p.Ala4301Val
ENST00000355481.8:c.12887C>T	ENSP00000347667.3:p.Ala4296Val
ENST00000359596.7:c.12902C>T	ENSP00000352608.2:p.Ala4301Val
ENST00000360985.7:c.12884C>T	ENSP00000354254.4:p.Ala4295Val
NM_000540.2:c.12902C>T , LRG_766t1:c.12902C>T	NP_000531.2:p.Ala4301Val
NM_001042723.1:c.12887C>T	NP_001036188.1:p.Ala4296Val
XM_006723317.1:c.12884C>T	XP_006723380.1:p.Ala4295Val
XM_006723319.1:c.12869C>T	XP_006723382.1:p.Ala4290Val
XM_011527204.1:c.12899C>T	XP_011525506.1:p.Ala4300Val
XM_011527205.1:c.12902C>T	XP_011525507.1:p.Ala4301Val
XM_006723317.2:c.12884C>T	XP_006723380.1:p.Ala4295Val
XM_006723319.2:c.12869C>T	XP_006723382.1:p.Ala4290Val
XM_011527205.2:c.12902C>T	XP_011525507.1:p.Ala4301Val
NM_000540.3:c.12902C>T MANE Select	NP_000531.2:p.Ala4301Val
NM_001042723.2:c.12887C>T	NP_001036188.1:p.Ala4296Val