Canonical Allele Identifier: CA507356228

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2694067
• ClinVar RCV Id: RCV003592398
• dbSNP Id: rs1453089602
• MyVariant Identifiers: chr19:g.39062877C>G (hg19) ; chr19:g.38572237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572237C>G , CM000681.2:g.38572237C>G	GRCh38
NC_000019.9:g.39062877C>G , CM000681.1:g.39062877C>G	GRCh37
NC_000019.8:g.43754717C>G	NCBI36
NG_008866.1:g.143538C>G , LRG_766:g.143538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.901C>G
ENST00000688602.1:c.2298C>G
ENST00000689936.1:c.2270C>G
ENST00000359596.8:c.13965C>G MANE Select	ENSP00000352608.2:p.Ala4655=
ENST00000355481.8:c.13950C>G	ENSP00000347667.3:p.Ala4650=
ENST00000359596.7:c.13965C>G	ENSP00000352608.2:p.Ala4655=
ENST00000360985.7:c.13947C>G	ENSP00000354254.4:p.Ala4649=
ENST00000593677.1:c.425C>G
NM_000540.2:c.13965C>G , LRG_766t1:c.13965C>G	NP_000531.2:p.Ala4655=
NM_001042723.1:c.13950C>G	NP_001036188.1:p.Ala4650=
XM_006723317.1:c.13947C>G	XP_006723380.1:p.Ala4649=
XM_006723319.1:c.13932C>G	XP_006723382.1:p.Ala4644=
XM_011527204.1:c.13962C>G	XP_011525506.1:p.Ala4654=
XM_011527205.1:c.13878C>G	XP_011525507.1:p.Ala4626=
XM_006723317.2:c.13947C>G	XP_006723380.1:p.Ala4649=
XM_006723319.2:c.13932C>G	XP_006723382.1:p.Ala4644=
XM_011527205.2:c.13878C>G	XP_011525507.1:p.Ala4626=
NM_000540.3:c.13965C>G MANE Select	NP_000531.2:p.Ala4655=
NM_001042723.2:c.13950C>G	NP_001036188.1:p.Ala4650=