Canonical Allele Identifier: CA405671079

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1007754
• ClinVar RCV Id: RCV001304981 ; RCV002493598
• dbSNP Id: rs1973328675
• gnomAD v4: 19-38565088-G-C
• MyVariant Identifiers: chr19:g.39055728G>C (hg19) ; chr19:g.38565088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565088G>C , CM000681.2:g.38565088G>C	GRCh38
NC_000019.9:g.39055728G>C , CM000681.1:g.39055728G>C	GRCh37
NC_000019.8:g.43747568G>C	NCBI36
NG_008866.1:g.136389G>C , LRG_766:g.136389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1164G>C
ENST00000689936.1:c.1146G>C
ENST00000359596.8:c.12754G>C MANE Select	ENSP00000352608.2:p.Glu4252Gln
ENST00000355481.8:c.12739G>C	ENSP00000347667.3:p.Glu4247Gln
ENST00000359596.7:c.12754G>C	ENSP00000352608.2:p.Glu4252Gln
ENST00000360985.7:c.12736G>C	ENSP00000354254.4:p.Glu4246Gln
ENST00000594335.5:c.6123G>C
NM_000540.2:c.12754G>C , LRG_766t1:c.12754G>C	NP_000531.2:p.Glu4252Gln
NM_001042723.1:c.12739G>C	NP_001036188.1:p.Glu4247Gln
XM_006723317.1:c.12736G>C	XP_006723380.1:p.Glu4246Gln
XM_006723319.1:c.12721G>C	XP_006723382.1:p.Glu4241Gln
XM_011527204.1:c.12751G>C	XP_011525506.1:p.Glu4251Gln
XM_011527205.1:c.12754G>C	XP_011525507.1:p.Glu4252Gln
XM_006723317.2:c.12736G>C	XP_006723380.1:p.Glu4246Gln
XM_006723319.2:c.12721G>C	XP_006723382.1:p.Glu4241Gln
XM_011527205.2:c.12754G>C	XP_011525507.1:p.Glu4252Gln
NM_000540.3:c.12754G>C MANE Select	NP_000531.2:p.Glu4252Gln
NM_001042723.2:c.12739G>C	NP_001036188.1:p.Glu4247Gln