Canonical Allele Identifier: CA405674226

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3030362
• ClinVar RCV Id: RCV004531900
• dbSNP Id: rs1196338124
• gnomAD v2: 19-39056170-C-T
• gnomAD v4: 19-38565530-C-T
• MyVariant Identifiers: chr19:g.39056170C>T (hg19) ; chr19:g.38565530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565530C>T , CM000681.2:g.38565530C>T	GRCh38
NC_000019.9:g.39056170C>T , CM000681.1:g.39056170C>T	GRCh37
NC_000019.8:g.43748010C>T	NCBI36
NG_008866.1:g.136831C>T , LRG_766:g.136831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.132C>T
ENST00000688602.1:c.1606C>T
ENST00000689936.1:c.1588C>T
ENST00000359596.8:c.13196C>T MANE Select	ENSP00000352608.2:p.Pro4399Leu
ENST00000355481.8:c.13181C>T	ENSP00000347667.3:p.Pro4394Leu
ENST00000359596.7:c.13196C>T	ENSP00000352608.2:p.Pro4399Leu
ENST00000360985.7:c.13178C>T	ENSP00000354254.4:p.Pro4393Leu
NM_000540.2:c.13196C>T , LRG_766t1:c.13196C>T	NP_000531.2:p.Pro4399Leu
NM_001042723.1:c.13181C>T	NP_001036188.1:p.Pro4394Leu
XM_006723317.1:c.13178C>T	XP_006723380.1:p.Pro4393Leu
XM_006723319.1:c.13163C>T	XP_006723382.1:p.Pro4388Leu
XM_011527204.1:c.13193C>T	XP_011525506.1:p.Pro4398Leu
XM_011527205.1:c.13196C>T	XP_011525507.1:p.Pro4399Leu
XM_006723317.2:c.13178C>T	XP_006723380.1:p.Pro4393Leu
XM_006723319.2:c.13163C>T	XP_006723382.1:p.Pro4388Leu
XM_011527205.2:c.13196C>T	XP_011525507.1:p.Pro4399Leu
NM_000540.3:c.13196C>T MANE Select	NP_000531.2:p.Pro4399Leu
NM_001042723.2:c.13181C>T	NP_001036188.1:p.Pro4394Leu