Canonical Allele Identifier: CA071456

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329075
• ClinVar RCV Id: RCV000259500 ; RCV000284075 ; RCV000319320 ; RCV000373972 ; RCV000861066
• dbSNP Id: rs368063600
• ExAC: 19:38995399 G / A
• gnomAD v2: 19-38995399-G-A
• gnomAD v3: 19-38504759-G-A
• gnomAD v4: 19-38504759-G-A
• MyVariant Identifiers: chr19:g.38995399G>A (hg19) ; chr19:g.38504759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38504759G>A , CM000681.2:g.38504759G>A	GRCh38
NC_000019.9:g.38995399G>A , CM000681.1:g.38995399G>A	GRCh37
NC_000019.8:g.43687239G>A	NCBI36
NG_008866.1:g.76060G>A , LRG_766:g.76060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.8079G>A	ENSP00000471601.2:p.Pro2693=
ENST00000359596.8:c.8079G>A MANE Select	ENSP00000352608.2:p.Pro2693=
ENST00000355481.8:c.8079G>A	ENSP00000347667.3:p.Pro2693=
ENST00000359596.7:c.8079G>A	ENSP00000352608.2:p.Pro2693=
ENST00000360985.7:c.8076G>A	ENSP00000354254.4:p.Pro2692=
ENST00000594335.5:c.1531G>A
NM_000540.2:c.8079G>A , LRG_766t1:c.8079G>A	NP_000531.2:p.Pro2693=
NM_001042723.1:c.8079G>A	NP_001036188.1:p.Pro2693=
XM_006723317.1:c.8079G>A	XP_006723380.1:p.Pro2693=
XM_006723319.1:c.8079G>A	XP_006723382.1:p.Pro2693=
XM_011527204.1:c.8076G>A	XP_011525506.1:p.Pro2692=
XM_011527205.1:c.8079G>A	XP_011525507.1:p.Pro2693=
XM_006723317.2:c.8079G>A	XP_006723380.1:p.Pro2693=
XM_006723319.2:c.8079G>A	XP_006723382.1:p.Pro2693=
XM_011527205.2:c.8079G>A	XP_011525507.1:p.Pro2693=
XR_001753735.1:n.8162G>A
NM_000540.3:c.8079G>A MANE Select	NP_000531.2:p.Pro2693=
NM_001042723.2:c.8079G>A	NP_001036188.1:p.Pro2693=