Canonical Allele Identifier: CA059539

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329122
• ClinVar RCV Id: RCV000277297 ; RCV000313598 ; RCV000363576 ; RCV000366875 ; RCV003757174
• dbSNP Id: rs758223017
• ExAC: 19:39056012 T / C
• gnomAD v4: 19-38565372-T-C
• MyVariant Identifiers: chr19:g.39056012T>C (hg19) ; chr19:g.38565372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565372T>C , CM000681.2:g.38565372T>C	GRCh38
NC_000019.9:g.39056012T>C , CM000681.1:g.39056012T>C	GRCh37
NC_000019.8:g.43747852T>C	NCBI36
NG_008866.1:g.136673T>C , LRG_766:g.136673T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1448T>C
ENST00000689936.1:c.1430T>C
ENST00000359596.8:c.13038T>C MANE Select	ENSP00000352608.2:p.Ala4346=
ENST00000355481.8:c.13023T>C	ENSP00000347667.3:p.Ala4341=
ENST00000359596.7:c.13038T>C	ENSP00000352608.2:p.Ala4346=
ENST00000360985.7:c.13020T>C	ENSP00000354254.4:p.Ala4340=
NM_000540.2:c.13038T>C , LRG_766t1:c.13038T>C	NP_000531.2:p.Ala4346=
NM_001042723.1:c.13023T>C	NP_001036188.1:p.Ala4341=
XM_006723317.1:c.13020T>C	XP_006723380.1:p.Ala4340=
XM_006723319.1:c.13005T>C	XP_006723382.1:p.Ala4335=
XM_011527204.1:c.13035T>C	XP_011525506.1:p.Ala4345=
XM_011527205.1:c.13038T>C	XP_011525507.1:p.Ala4346=
XM_006723317.2:c.13020T>C	XP_006723380.1:p.Ala4340=
XM_006723319.2:c.13005T>C	XP_006723382.1:p.Ala4335=
XM_011527205.2:c.13038T>C	XP_011525507.1:p.Ala4346=
NM_000540.3:c.13038T>C MANE Select	NP_000531.2:p.Ala4346=
NM_001042723.2:c.13023T>C	NP_001036188.1:p.Ala4341=