Canonical Allele Identifier: CA057527

Gene: RYR1

Linked Data

• ClinVar Variation Id: 385637
• ClinVar RCV Id: RCV000655686 ; RCV002059572
• dbSNP Id: rs201588544
• ExAC: 19:39033988 T / C
• gnomAD v2: 19-39033988-T-C
• gnomAD v3: 19-38543348-T-C
• gnomAD v4: 19-38543348-T-C
• MyVariant Identifiers: chr19:g.39033988T>C (hg19) ; chr19:g.38543348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543348T>C , CM000681.2:g.38543348T>C	GRCh38
NC_000019.9:g.39033988T>C , CM000681.1:g.39033988T>C	GRCh37
NC_000019.8:g.43725828T>C	NCBI36
NG_008866.1:g.114649T>C , LRG_766:g.114649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.101T>C
ENST00000689936.1:c.83T>C
ENST00000359596.8:c.11691T>C MANE Select	ENSP00000352608.2:p.Asp3897=
ENST00000355481.8:c.11676T>C	ENSP00000347667.3:p.Asp3892=
ENST00000359596.7:c.11691T>C	ENSP00000352608.2:p.Asp3897=
ENST00000360985.7:c.11673T>C	ENSP00000354254.4:p.Asp3891=
ENST00000593322.1:c.300T>C
ENST00000594335.5:c.5060T>C
NM_000540.2:c.11691T>C , LRG_766t1:c.11691T>C	NP_000531.2:p.Asp3897=
NM_001042723.1:c.11676T>C	NP_001036188.1:p.Asp3892=
XM_006723317.1:c.11673T>C	XP_006723380.1:p.Asp3891=
XM_006723319.1:c.11658T>C	XP_006723382.1:p.Asp3886=
XM_011527204.1:c.11688T>C	XP_011525506.1:p.Asp3896=
XM_011527205.1:c.11691T>C	XP_011525507.1:p.Asp3897=
XM_006723317.2:c.11673T>C	XP_006723380.1:p.Asp3891=
XM_006723319.2:c.11658T>C	XP_006723382.1:p.Asp3886=
XM_011527205.2:c.11691T>C	XP_011525507.1:p.Asp3897=
NM_000540.3:c.11691T>C MANE Select	NP_000531.2:p.Asp3897=
NM_001042723.2:c.11676T>C	NP_001036188.1:p.Asp3892=