Canonical Allele Identifier: CA10652412

Gene: RYR1

Linked Data

• ClinVar Variation Id: 328987
• ClinVar RCV Id: RCV000298762 ; RCV000311502 ; RCV000352345 ; RCV000408324 ; RCV002480165
• dbSNP Id: rs886054375
• gnomAD v2: 19-38924396-A-C
• gnomAD v3: 19-38433756-A-C
• gnomAD v4: 19-38433756-A-C
• MyVariant Identifiers: chr19:g.38924396A>C (hg19) ; chr19:g.38433756A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38433756A>C , CM000681.2:g.38433756A>C	GRCh38
NC_000019.9:g.38924396A>C , CM000681.1:g.38924396A>C	GRCh37
NC_000019.8:g.43616236A>C	NCBI36
NG_008866.1:g.5057A>C , LRG_766:g.5057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.-74A>C MANE Select	ENSP00000352608.2:n.-74A>C
ENST00000355481.8:c.-74A>C	ENSP00000347667.3:n.-74A>C
ENST00000360985.7:c.-74A>C	ENSP00000354254.4:n.-74A>C
NM_000540.2:c.-74A>C , LRG_766t1:c.-74A>C	NP_000531.2:n.-74A>C
NM_001042723.1:c.-74A>C	NP_001036188.1:n.-74A>C
XM_006723317.2:c.-74A>C	XP_006723380.1:n.-74A>C
XM_006723319.2:c.-74A>C	XP_006723382.1:n.-74A>C
XM_011527205.2:c.-74A>C	XP_011525507.1:n.-74A>C
XR_001753735.1:n.10A>C
NM_000540.3:c.-74A>C MANE Select	NP_000531.2:n.-74A>C
NM_001042723.2:c.-74A>C	NP_001036188.1:n.-74A>C