Canonical Allele Identifier: CA405673828

Gene: RYR1

Linked Data

• dbSNP Id: rs1599635690
• MyVariant Identifiers: chr19:g.39056136A>C (hg19) ; chr19:g.38565496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565496A>C , CM000681.2:g.38565496A>C	GRCh38
NC_000019.9:g.39056136A>C , CM000681.1:g.39056136A>C	GRCh37
NC_000019.8:g.43747976A>C	NCBI36
NG_008866.1:g.136797A>C , LRG_766:g.136797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.98A>C
ENST00000688602.1:c.1572A>C
ENST00000689936.1:c.1554A>C
ENST00000359596.8:c.13162A>C MANE Select	ENSP00000352608.2:p.Ser4388Arg
ENST00000355481.8:c.13147A>C	ENSP00000347667.3:p.Ser4383Arg
ENST00000359596.7:c.13162A>C	ENSP00000352608.2:p.Ser4388Arg
ENST00000360985.7:c.13144A>C	ENSP00000354254.4:p.Ser4382Arg
NM_000540.2:c.13162A>C , LRG_766t1:c.13162A>C	NP_000531.2:p.Ser4388Arg
NM_001042723.1:c.13147A>C	NP_001036188.1:p.Ser4383Arg
XM_006723317.1:c.13144A>C	XP_006723380.1:p.Ser4382Arg
XM_006723319.1:c.13129A>C	XP_006723382.1:p.Ser4377Arg
XM_011527204.1:c.13159A>C	XP_011525506.1:p.Ser4387Arg
XM_011527205.1:c.13162A>C	XP_011525507.1:p.Ser4388Arg
XM_006723317.2:c.13144A>C	XP_006723380.1:p.Ser4382Arg
XM_006723319.2:c.13129A>C	XP_006723382.1:p.Ser4377Arg
XM_011527205.2:c.13162A>C	XP_011525507.1:p.Ser4388Arg
NM_000540.3:c.13162A>C MANE Select	NP_000531.2:p.Ser4388Arg
NM_001042723.2:c.13147A>C	NP_001036188.1:p.Ser4383Arg