Canonical Allele Identifier: CA405674068

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39056156G>C (hg19) ; chr19:g.38565516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565516G>C , CM000681.2:g.38565516G>C	GRCh38
NC_000019.9:g.39056156G>C , CM000681.1:g.39056156G>C	GRCh37
NC_000019.8:g.43747996G>C	NCBI36
NG_008866.1:g.136817G>C , LRG_766:g.136817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.118G>C
ENST00000688602.1:c.1592G>C
ENST00000689936.1:c.1574G>C
ENST00000359596.8:c.13182G>C MANE Select	ENSP00000352608.2:p.Glu4394Asp
ENST00000355481.8:c.13167G>C	ENSP00000347667.3:p.Glu4389Asp
ENST00000359596.7:c.13182G>C	ENSP00000352608.2:p.Glu4394Asp
ENST00000360985.7:c.13164G>C	ENSP00000354254.4:p.Glu4388Asp
NM_000540.2:c.13182G>C , LRG_766t1:c.13182G>C	NP_000531.2:p.Glu4394Asp
NM_001042723.1:c.13167G>C	NP_001036188.1:p.Glu4389Asp
XM_006723317.1:c.13164G>C	XP_006723380.1:p.Glu4388Asp
XM_006723319.1:c.13149G>C	XP_006723382.1:p.Glu4383Asp
XM_011527204.1:c.13179G>C	XP_011525506.1:p.Glu4393Asp
XM_011527205.1:c.13182G>C	XP_011525507.1:p.Glu4394Asp
XM_006723317.2:c.13164G>C	XP_006723380.1:p.Glu4388Asp
XM_006723319.2:c.13149G>C	XP_006723382.1:p.Glu4383Asp
XM_011527205.2:c.13182G>C	XP_011525507.1:p.Glu4394Asp
NM_000540.3:c.13182G>C MANE Select	NP_000531.2:p.Glu4394Asp
NM_001042723.2:c.13167G>C	NP_001036188.1:p.Glu4389Asp