Canonical Allele Identifier: CA405672859

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2881613
• ClinVar RCV Id: RCV003757963
• dbSNP Id: rs1973353668
• gnomAD v3: 19-38565322-A-C
• gnomAD v4: 19-38565322-A-C
• MyVariant Identifiers: chr19:g.39055962A>C (hg19) ; chr19:g.38565322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565322A>C , CM000681.2:g.38565322A>C	GRCh38
NC_000019.9:g.39055962A>C , CM000681.1:g.39055962A>C	GRCh37
NC_000019.8:g.43747802A>C	NCBI36
NG_008866.1:g.136623A>C , LRG_766:g.136623A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1398A>C
ENST00000689936.1:c.1380A>C
ENST00000359596.8:c.12988A>C MANE Select	ENSP00000352608.2:p.Thr4330Pro
ENST00000355481.8:c.12973A>C	ENSP00000347667.3:p.Thr4325Pro
ENST00000359596.7:c.12988A>C	ENSP00000352608.2:p.Thr4330Pro
ENST00000360985.7:c.12970A>C	ENSP00000354254.4:p.Thr4324Pro
NM_000540.2:c.12988A>C , LRG_766t1:c.12988A>C	NP_000531.2:p.Thr4330Pro
NM_001042723.1:c.12973A>C	NP_001036188.1:p.Thr4325Pro
XM_006723317.1:c.12970A>C	XP_006723380.1:p.Thr4324Pro
XM_006723319.1:c.12955A>C	XP_006723382.1:p.Thr4319Pro
XM_011527204.1:c.12985A>C	XP_011525506.1:p.Thr4329Pro
XM_011527205.1:c.12988A>C	XP_011525507.1:p.Thr4330Pro
XM_006723317.2:c.12970A>C	XP_006723380.1:p.Thr4324Pro
XM_006723319.2:c.12955A>C	XP_006723382.1:p.Thr4319Pro
XM_011527205.2:c.12988A>C	XP_011525507.1:p.Thr4330Pro
NM_000540.3:c.12988A>C MANE Select	NP_000531.2:p.Thr4330Pro
NM_001042723.2:c.12973A>C	NP_001036188.1:p.Thr4325Pro