Canonical Allele Identifier: CA405674066

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39056155A>T (hg19) ; chr19:g.38565515A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565515A>T , CM000681.2:g.38565515A>T	GRCh38
NC_000019.9:g.39056155A>T , CM000681.1:g.39056155A>T	GRCh37
NC_000019.8:g.43747995A>T	NCBI36
NG_008866.1:g.136816A>T , LRG_766:g.136816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.117A>T
ENST00000688602.1:c.1591A>T
ENST00000689936.1:c.1573A>T
ENST00000359596.8:c.13181A>T MANE Select	ENSP00000352608.2:p.Glu4394Val
ENST00000355481.8:c.13166A>T	ENSP00000347667.3:p.Glu4389Val
ENST00000359596.7:c.13181A>T	ENSP00000352608.2:p.Glu4394Val
ENST00000360985.7:c.13163A>T	ENSP00000354254.4:p.Glu4388Val
NM_000540.2:c.13181A>T , LRG_766t1:c.13181A>T	NP_000531.2:p.Glu4394Val
NM_001042723.1:c.13166A>T	NP_001036188.1:p.Glu4389Val
XM_006723317.1:c.13163A>T	XP_006723380.1:p.Glu4388Val
XM_006723319.1:c.13148A>T	XP_006723382.1:p.Glu4383Val
XM_011527204.1:c.13178A>T	XP_011525506.1:p.Glu4393Val
XM_011527205.1:c.13181A>T	XP_011525507.1:p.Glu4394Val
XM_006723317.2:c.13163A>T	XP_006723380.1:p.Glu4388Val
XM_006723319.2:c.13148A>T	XP_006723382.1:p.Glu4383Val
XM_011527205.2:c.13181A>T	XP_011525507.1:p.Glu4394Val
NM_000540.3:c.13181A>T MANE Select	NP_000531.2:p.Glu4394Val
NM_001042723.2:c.13166A>T	NP_001036188.1:p.Glu4389Val