Canonical Allele Identifier: CA068150

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329049
• ClinVar RCV Id: RCV000303533 ; RCV000358367 ; RCV000398295 ; RCV000393407 ; RCV003320631
• dbSNP Id: rs201649680
• ExAC: 19:38985070 G / C
• gnomAD v2: 19-38985070-G-C
• gnomAD v3: 19-38494430-G-C
• gnomAD v4: 19-38494430-G-C
• MyVariant Identifiers: chr19:g.38985070G>C (hg19) ; chr19:g.38494430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38494430G>C , CM000681.2:g.38494430G>C	GRCh38
NC_000019.9:g.38985070G>C , CM000681.1:g.38985070G>C	GRCh37
NC_000019.8:g.43676910G>C	NCBI36
NG_008866.1:g.65731G>C , LRG_766:g.65731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6353G>C	ENSP00000471601.2:p.Arg2118Pro
ENST00000359596.8:c.6353G>C MANE Select	ENSP00000352608.2:p.Arg2118Pro
ENST00000355481.8:c.6353G>C	ENSP00000347667.3:p.Arg2118Pro
ENST00000359596.7:c.6353G>C	ENSP00000352608.2:p.Arg2118Pro
ENST00000360985.7:c.6350G>C	ENSP00000354254.4:p.Arg2117Pro
NM_000540.2:c.6353G>C , LRG_766t1:c.6353G>C	NP_000531.2:p.Arg2118Pro
NM_001042723.1:c.6353G>C	NP_001036188.1:p.Arg2118Pro
XM_006723317.1:c.6353G>C	XP_006723380.1:p.Arg2118Pro
XM_006723319.1:c.6353G>C	XP_006723382.1:p.Arg2118Pro
XM_011527204.1:c.6350G>C	XP_011525506.1:p.Arg2117Pro
XM_011527205.1:c.6353G>C	XP_011525507.1:p.Arg2118Pro
XM_006723317.2:c.6353G>C	XP_006723380.1:p.Arg2118Pro
XM_006723319.2:c.6353G>C	XP_006723382.1:p.Arg2118Pro
XM_011527205.2:c.6353G>C	XP_011525507.1:p.Arg2118Pro
XR_001753735.1:n.6436G>C
NM_000540.3:c.6353G>C MANE Select	NP_000531.2:p.Arg2118Pro
NM_001042723.2:c.6353G>C	NP_001036188.1:p.Arg2118Pro