Canonical Allele Identifier: CA405682051

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2637164
• ClinVar RCV Id: RCV003421157
• dbSNP Id: rs1378518749
• gnomAD v2: 19-39063853-G-A
• gnomAD v3: 19-38573213-G-A
• gnomAD v4: 19-38573213-G-A
• MyVariant Identifiers: chr19:g.39063853G>A (hg19) ; chr19:g.38573213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573213G>A , CM000681.2:g.38573213G>A	GRCh38
NC_000019.9:g.39063853G>A , CM000681.1:g.39063853G>A	GRCh37
NC_000019.8:g.43755693G>A	NCBI36
NG_008866.1:g.144514G>A , LRG_766:g.144514G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.971G>A
ENST00000688602.1:c.2368G>A
ENST00000689936.1:c.2340G>A
ENST00000359596.8:c.14035G>A MANE Select	ENSP00000352608.2:p.Ala4679Thr
ENST00000355481.8:c.14020G>A	ENSP00000347667.3:p.Ala4674Thr
ENST00000359596.7:c.14035G>A	ENSP00000352608.2:p.Ala4679Thr
ENST00000360985.7:c.14017G>A	ENSP00000354254.4:p.Ala4673Thr
NM_000540.2:c.14035G>A , LRG_766t1:c.14035G>A	NP_000531.2:p.Ala4679Thr
NM_001042723.1:c.14020G>A	NP_001036188.1:p.Ala4674Thr
XM_006723317.1:c.14017G>A	XP_006723380.1:p.Ala4673Thr
XM_006723319.1:c.14002G>A	XP_006723382.1:p.Ala4668Thr
XM_011527204.1:c.14032G>A	XP_011525506.1:p.Ala4678Thr
XM_011527205.1:c.13948G>A	XP_011525507.1:p.Ala4650Thr
XM_006723317.2:c.14017G>A	XP_006723380.1:p.Ala4673Thr
XM_006723319.2:c.14002G>A	XP_006723382.1:p.Ala4668Thr
XM_011527205.2:c.13948G>A	XP_011525507.1:p.Ala4650Thr
NM_000540.3:c.14035G>A MANE Select	NP_000531.2:p.Ala4679Thr
NM_001042723.2:c.14020G>A	NP_001036188.1:p.Ala4674Thr