Canonical Allele Identifier: CA405672452

Gene: RYR1

Linked Data

• dbSNP Id: rs1182176099
• gnomAD v4: 19-38565221-G-T
• MyVariant Identifiers: chr19:g.39055861G>T (hg19) ; chr19:g.38565221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565221G>T , CM000681.2:g.38565221G>T	GRCh38
NC_000019.9:g.39055861G>T , CM000681.1:g.39055861G>T	GRCh37
NC_000019.8:g.43747701G>T	NCBI36
NG_008866.1:g.136522G>T , LRG_766:g.136522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1297G>T
ENST00000689936.1:c.1279G>T
ENST00000359596.8:c.12887G>T MANE Select	ENSP00000352608.2:p.Arg4296Leu
ENST00000355481.8:c.12872G>T	ENSP00000347667.3:p.Arg4291Leu
ENST00000359596.7:c.12887G>T	ENSP00000352608.2:p.Arg4296Leu
ENST00000360985.7:c.12869G>T	ENSP00000354254.4:p.Arg4290Leu
ENST00000594335.5:c.6256G>T
NM_000540.2:c.12887G>T , LRG_766t1:c.12887G>T	NP_000531.2:p.Arg4296Leu
NM_001042723.1:c.12872G>T	NP_001036188.1:p.Arg4291Leu
XM_006723317.1:c.12869G>T	XP_006723380.1:p.Arg4290Leu
XM_006723319.1:c.12854G>T	XP_006723382.1:p.Arg4285Leu
XM_011527204.1:c.12884G>T	XP_011525506.1:p.Arg4295Leu
XM_011527205.1:c.12887G>T	XP_011525507.1:p.Arg4296Leu
XM_006723317.2:c.12869G>T	XP_006723380.1:p.Arg4290Leu
XM_006723319.2:c.12854G>T	XP_006723382.1:p.Arg4285Leu
XM_011527205.2:c.12887G>T	XP_011525507.1:p.Arg4296Leu
NM_000540.3:c.12887G>T MANE Select	NP_000531.2:p.Arg4296Leu
NM_001042723.2:c.12872G>T	NP_001036188.1:p.Arg4291Leu