Canonical Allele Identifier: CA507355831

Gene: RYR1

Linked Data

• ClinVar Variation Id: 738754
• ClinVar RCV Id: RCV001464447
• dbSNP Id: rs1599635952
• MyVariant Identifiers: chr19:g.39056198C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565558C>G , CM000681.2:g.38565558C>G	GRCh38
NC_000019.9:g.39056198C>G , CM000681.1:g.39056198C>G	GRCh37
NC_000019.8:g.43748038C>G	NCBI36
NG_008866.1:g.136859C>G , LRG_766:g.136859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.160C>G
ENST00000688602.1:c.1634C>G
ENST00000689936.1:c.1616C>G
ENST00000359596.8:c.13224C>G MANE Select	ENSP00000352608.2:p.Ala4408=
ENST00000355481.8:c.13209C>G	ENSP00000347667.3:p.Ala4403=
ENST00000359596.7:c.13224C>G	ENSP00000352608.2:p.Ala4408=
ENST00000360985.7:c.13206C>G	ENSP00000354254.4:p.Ala4402=
NM_000540.2:c.13224C>G , LRG_766t1:c.13224C>G	NP_000531.2:p.Ala4408=
NM_001042723.1:c.13209C>G	NP_001036188.1:p.Ala4403=
XM_006723317.1:c.13206C>G	XP_006723380.1:p.Ala4402=
XM_006723319.1:c.13191C>G	XP_006723382.1:p.Ala4397=
XM_011527204.1:c.13221C>G	XP_011525506.1:p.Ala4407=
XM_011527205.1:c.13224C>G	XP_011525507.1:p.Ala4408=
XM_006723317.2:c.13206C>G	XP_006723380.1:p.Ala4402=
XM_006723319.2:c.13191C>G	XP_006723382.1:p.Ala4397=
XM_011527205.2:c.13224C>G	XP_011525507.1:p.Ala4408=
NM_000540.3:c.13224C>G MANE Select	NP_000531.2:p.Ala4408=
NM_001042723.2:c.13209C>G	NP_001036188.1:p.Ala4403=