Canonical Allele Identifier: CA507355463

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1077727
• ClinVar RCV Id: RCV001392403
• dbSNP Id: rs1599634706
• gnomAD v3: 19-38565192-G-C
• gnomAD v4: 19-38565192-G-C
• MyVariant Identifiers: chr19:g.39055832G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565192G>C , CM000681.2:g.38565192G>C	GRCh38
NC_000019.9:g.39055832G>C , CM000681.1:g.39055832G>C	GRCh37
NC_000019.8:g.43747672G>C	NCBI36
NG_008866.1:g.136493G>C , LRG_766:g.136493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1268G>C
ENST00000689936.1:c.1250G>C
ENST00000359596.8:c.12858G>C MANE Select	ENSP00000352608.2:p.Ala4286=
ENST00000355481.8:c.12843G>C	ENSP00000347667.3:p.Ala4281=
ENST00000359596.7:c.12858G>C	ENSP00000352608.2:p.Ala4286=
ENST00000360985.7:c.12840G>C	ENSP00000354254.4:p.Ala4280=
ENST00000594335.5:c.6227G>C
NM_000540.2:c.12858G>C , LRG_766t1:c.12858G>C	NP_000531.2:p.Ala4286=
NM_001042723.1:c.12843G>C	NP_001036188.1:p.Ala4281=
XM_006723317.1:c.12840G>C	XP_006723380.1:p.Ala4280=
XM_006723319.1:c.12825G>C	XP_006723382.1:p.Ala4275=
XM_011527204.1:c.12855G>C	XP_011525506.1:p.Ala4285=
XM_011527205.1:c.12858G>C	XP_011525507.1:p.Ala4286=
XM_006723317.2:c.12840G>C	XP_006723380.1:p.Ala4280=
XM_006723319.2:c.12825G>C	XP_006723382.1:p.Ala4275=
XM_011527205.2:c.12858G>C	XP_011525507.1:p.Ala4286=
NM_000540.3:c.12858G>C MANE Select	NP_000531.2:p.Ala4286=
NM_001042723.2:c.12843G>C	NP_001036188.1:p.Ala4281=