Canonical Allele Identifier: CA405670974

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565043-T-C
• MyVariant Identifiers: chr19:g.39055683T>C (hg19) ; chr19:g.38565043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565043T>C , CM000681.2:g.38565043T>C	GRCh38
NC_000019.9:g.39055683T>C , CM000681.1:g.39055683T>C	GRCh37
NC_000019.8:g.43747523T>C	NCBI36
NG_008866.1:g.136344T>C , LRG_766:g.136344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1119T>C
ENST00000689936.1:c.1101T>C
ENST00000359596.8:c.12709T>C MANE Select	ENSP00000352608.2:p.Cys4237Arg
ENST00000355481.8:c.12694T>C	ENSP00000347667.3:p.Cys4232Arg
ENST00000359596.7:c.12709T>C	ENSP00000352608.2:p.Cys4237Arg
ENST00000360985.7:c.12691T>C	ENSP00000354254.4:p.Cys4231Arg
ENST00000594335.5:c.6078T>C
NM_000540.2:c.12709T>C , LRG_766t1:c.12709T>C	NP_000531.2:p.Cys4237Arg
NM_001042723.1:c.12694T>C	NP_001036188.1:p.Cys4232Arg
XM_006723317.1:c.12691T>C	XP_006723380.1:p.Cys4231Arg
XM_006723319.1:c.12676T>C	XP_006723382.1:p.Cys4226Arg
XM_011527204.1:c.12706T>C	XP_011525506.1:p.Cys4236Arg
XM_011527205.1:c.12709T>C	XP_011525507.1:p.Cys4237Arg
XM_006723317.2:c.12691T>C	XP_006723380.1:p.Cys4231Arg
XM_006723319.2:c.12676T>C	XP_006723382.1:p.Cys4226Arg
XM_011527205.2:c.12709T>C	XP_011525507.1:p.Cys4237Arg
NM_000540.3:c.12709T>C MANE Select	NP_000531.2:p.Cys4237Arg
NM_001042723.2:c.12694T>C	NP_001036188.1:p.Cys4232Arg