Canonical Allele Identifier: CA10648658

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329120
• ClinVar RCV Id: RCV000275321 ; RCV000295165 ; RCV000330216 ; RCV000389391 ; RCV000655680
• dbSNP Id: rs571850239
• gnomAD v2: 19-39055862-G-C
• gnomAD v3: 19-38565222-G-C
• gnomAD v4: 19-38565222-G-C
• MyVariant Identifiers: chr19:g.39055862G>C (hg19) ; chr19:g.38565222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565222G>C , CM000681.2:g.38565222G>C	GRCh38
NC_000019.9:g.39055862G>C , CM000681.1:g.39055862G>C	GRCh37
NC_000019.8:g.43747702G>C	NCBI36
NG_008866.1:g.136523G>C , LRG_766:g.136523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1298G>C
ENST00000689936.1:c.1280G>C
ENST00000359596.8:c.12888G>C MANE Select	ENSP00000352608.2:p.Arg4296=
ENST00000355481.8:c.12873G>C	ENSP00000347667.3:p.Arg4291=
ENST00000359596.7:c.12888G>C	ENSP00000352608.2:p.Arg4296=
ENST00000360985.7:c.12870G>C	ENSP00000354254.4:p.Arg4290=
ENST00000594335.5:c.6257G>C
NM_000540.2:c.12888G>C , LRG_766t1:c.12888G>C	NP_000531.2:p.Arg4296=
NM_001042723.1:c.12873G>C	NP_001036188.1:p.Arg4291=
XM_006723317.1:c.12870G>C	XP_006723380.1:p.Arg4290=
XM_006723319.1:c.12855G>C	XP_006723382.1:p.Arg4285=
XM_011527204.1:c.12885G>C	XP_011525506.1:p.Arg4295=
XM_011527205.1:c.12888G>C	XP_011525507.1:p.Arg4296=
XM_006723317.2:c.12870G>C	XP_006723380.1:p.Arg4290=
XM_006723319.2:c.12855G>C	XP_006723382.1:p.Arg4285=
XM_011527205.2:c.12888G>C	XP_011525507.1:p.Arg4296=
NM_000540.3:c.12888G>C MANE Select	NP_000531.2:p.Arg4296=
NM_001042723.2:c.12873G>C	NP_001036188.1:p.Arg4291=