Canonical Allele Identifier: CA405692345

Gene: RYR1

Linked Data

• ClinVar Variation Id: 523379
• ClinVar RCV Id: RCV000626709
• dbSNP Id: rs1555788577
• gnomAD v4: 19-38517523-T-C
• MyVariant Identifiers: chr19:g.39008163T>C (hg19) ; chr19:g.38517523T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517523T>C , CM000681.2:g.38517523T>C	GRCh38
NC_000019.9:g.39008163T>C , CM000681.1:g.39008163T>C	GRCh37
NC_000019.8:g.43700003T>C	NCBI36
NG_008866.1:g.88824T>C , LRG_766:g.88824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9789T>C	ENSP00000471601.2:n.9789T>C
ENST00000359596.8:c.9850T>C MANE Select	ENSP00000352608.2:p.Trp3284Arg
ENST00000355481.8:c.9850T>C	ENSP00000347667.3:p.Trp3284Arg
ENST00000359596.7:c.9850T>C	ENSP00000352608.2:p.Trp3284Arg
ENST00000360985.7:c.9847T>C	ENSP00000354254.4:p.Trp3283Arg
ENST00000594335.5:c.3252T>C
ENST00000599547.5:c.657T>C
NM_000540.2:c.9850T>C , LRG_766t1:c.9850T>C	NP_000531.2:p.Trp3284Arg
NM_001042723.1:c.9850T>C	NP_001036188.1:p.Trp3284Arg
XM_006723317.1:c.9850T>C	XP_006723380.1:p.Trp3284Arg
XM_006723319.1:c.9850T>C	XP_006723382.1:p.Trp3284Arg
XM_011527204.1:c.9847T>C	XP_011525506.1:p.Trp3283Arg
XM_011527205.1:c.9850T>C	XP_011525507.1:p.Trp3284Arg
XM_006723317.2:c.9850T>C	XP_006723380.1:p.Trp3284Arg
XM_006723319.2:c.9850T>C	XP_006723382.1:p.Trp3284Arg
XM_011527205.2:c.9850T>C	XP_011525507.1:p.Trp3284Arg
NM_000540.3:c.9850T>C MANE Select	NP_000531.2:p.Trp3284Arg
NM_001042723.2:c.9850T>C	NP_001036188.1:p.Trp3284Arg