Canonical Allele Identifier: CA405672550

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39055885C>G (hg19) ; chr19:g.38565245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565245C>G , CM000681.2:g.38565245C>G	GRCh38
NC_000019.9:g.39055885C>G , CM000681.1:g.39055885C>G	GRCh37
NC_000019.8:g.43747725C>G	NCBI36
NG_008866.1:g.136546C>G , LRG_766:g.136546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1321C>G
ENST00000689936.1:c.1303C>G
ENST00000359596.8:c.12911C>G MANE Select	ENSP00000352608.2:p.Ala4304Gly
ENST00000355481.8:c.12896C>G	ENSP00000347667.3:p.Ala4299Gly
ENST00000359596.7:c.12911C>G	ENSP00000352608.2:p.Ala4304Gly
ENST00000360985.7:c.12893C>G	ENSP00000354254.4:p.Ala4298Gly
NM_000540.2:c.12911C>G , LRG_766t1:c.12911C>G	NP_000531.2:p.Ala4304Gly
NM_001042723.1:c.12896C>G	NP_001036188.1:p.Ala4299Gly
XM_006723317.1:c.12893C>G	XP_006723380.1:p.Ala4298Gly
XM_006723319.1:c.12878C>G	XP_006723382.1:p.Ala4293Gly
XM_011527204.1:c.12908C>G	XP_011525506.1:p.Ala4303Gly
XM_011527205.1:c.12911C>G	XP_011525507.1:p.Ala4304Gly
XM_006723317.2:c.12893C>G	XP_006723380.1:p.Ala4298Gly
XM_006723319.2:c.12878C>G	XP_006723382.1:p.Ala4293Gly
XM_011527205.2:c.12911C>G	XP_011525507.1:p.Ala4304Gly
NM_000540.3:c.12911C>G MANE Select	NP_000531.2:p.Ala4304Gly
NM_001042723.2:c.12896C>G	NP_001036188.1:p.Ala4299Gly