Canonical Allele Identifier: CA10642763

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329121
• ClinVar RCV Id: RCV000290164 ; RCV000326773 ; RCV000340398 ; RCV000384595 ; RCV002523065
• dbSNP Id: rs886054405
• gnomAD v3: 19-38565288-G-A
• gnomAD v4: 19-38565288-G-A
• MyVariant Identifiers: chr19:g.39055928G>A (hg19) ; chr19:g.38565288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565288G>A , CM000681.2:g.38565288G>A	GRCh38
NC_000019.9:g.39055928G>A , CM000681.1:g.39055928G>A	GRCh37
NC_000019.8:g.43747768G>A	NCBI36
NG_008866.1:g.136589G>A , LRG_766:g.136589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1364G>A
ENST00000689936.1:c.1346G>A
ENST00000359596.8:c.12954G>A MANE Select	ENSP00000352608.2:p.Arg4318=
ENST00000355481.8:c.12939G>A	ENSP00000347667.3:p.Arg4313=
ENST00000359596.7:c.12954G>A	ENSP00000352608.2:p.Arg4318=
ENST00000360985.7:c.12936G>A	ENSP00000354254.4:p.Arg4312=
NM_000540.2:c.12954G>A , LRG_766t1:c.12954G>A	NP_000531.2:p.Arg4318=
NM_001042723.1:c.12939G>A	NP_001036188.1:p.Arg4313=
XM_006723317.1:c.12936G>A	XP_006723380.1:p.Arg4312=
XM_006723319.1:c.12921G>A	XP_006723382.1:p.Arg4307=
XM_011527204.1:c.12951G>A	XP_011525506.1:p.Arg4317=
XM_011527205.1:c.12954G>A	XP_011525507.1:p.Arg4318=
XM_006723317.2:c.12936G>A	XP_006723380.1:p.Arg4312=
XM_006723319.2:c.12921G>A	XP_006723382.1:p.Arg4307=
XM_011527205.2:c.12954G>A	XP_011525507.1:p.Arg4318=
NM_000540.3:c.12954G>A MANE Select	NP_000531.2:p.Arg4318=
NM_001042723.2:c.12939G>A	NP_001036188.1:p.Arg4313=