Canonical Allele Identifier: CA405674092

Gene: RYR1

Linked Data

• ClinVar Variation Id: 955384
• ClinVar RCV Id: RCV001228015 ; RCV003132304
• dbSNP Id: rs1973368011
• gnomAD v4: 19-38565518-A-C
• MyVariant Identifiers: chr19:g.39056158A>C (hg19) ; chr19:g.38565518A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565518A>C , CM000681.2:g.38565518A>C	GRCh38
NC_000019.9:g.39056158A>C , CM000681.1:g.39056158A>C	GRCh37
NC_000019.8:g.43747998A>C	NCBI36
NG_008866.1:g.136819A>C , LRG_766:g.136819A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.120A>C
ENST00000688602.1:c.1594A>C
ENST00000689936.1:c.1576A>C
ENST00000359596.8:c.13184A>C MANE Select	ENSP00000352608.2:p.Gln4395Pro
ENST00000355481.8:c.13169A>C	ENSP00000347667.3:p.Gln4390Pro
ENST00000359596.7:c.13184A>C	ENSP00000352608.2:p.Gln4395Pro
ENST00000360985.7:c.13166A>C	ENSP00000354254.4:p.Gln4389Pro
NM_000540.2:c.13184A>C , LRG_766t1:c.13184A>C	NP_000531.2:p.Gln4395Pro
NM_001042723.1:c.13169A>C	NP_001036188.1:p.Gln4390Pro
XM_006723317.1:c.13166A>C	XP_006723380.1:p.Gln4389Pro
XM_006723319.1:c.13151A>C	XP_006723382.1:p.Gln4384Pro
XM_011527204.1:c.13181A>C	XP_011525506.1:p.Gln4394Pro
XM_011527205.1:c.13184A>C	XP_011525507.1:p.Gln4395Pro
XM_006723317.2:c.13166A>C	XP_006723380.1:p.Gln4389Pro
XM_006723319.2:c.13151A>C	XP_006723382.1:p.Gln4384Pro
XM_011527205.2:c.13184A>C	XP_011525507.1:p.Gln4395Pro
NM_000540.3:c.13184A>C MANE Select	NP_000531.2:p.Gln4395Pro
NM_001042723.2:c.13169A>C	NP_001036188.1:p.Gln4390Pro