Canonical Allele Identifier: CA633066998

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3020598
• ClinVar RCV Id: RCV003879757
• dbSNP Id: rs1265683367
• gnomAD v2: 19-39075570-T-C
• MyVariant Identifiers: chr19:g.39075570T>C (hg19) ; chr19:g.38584930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584930T>C , CM000681.2:g.38584930T>C	GRCh38
NC_000019.9:g.39075570T>C , CM000681.1:g.39075570T>C	GRCh37
NC_000019.8:g.43767410T>C	NCBI36
NG_008866.1:g.156231T>C , LRG_766:g.156231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1583-13T>C
ENST00000688602.1:c.2980-13T>C
ENST00000689936.1:c.2952-13T>C
ENST00000692547.1:n.27T>C
ENST00000359596.8:c.14647-13T>C MANE Select	ENSP00000352608.2:n.14647-13T>C
ENST00000355481.8:c.14632-13T>C	ENSP00000347667.3:n.14632-13T>C
ENST00000359596.7:c.14647-13T>C	ENSP00000352608.2:n.14647-13T>C
ENST00000360985.7:c.14629-13T>C	ENSP00000354254.4:n.14629-13T>C
NM_000540.2:c.14647-13T>C , LRG_766t1:c.14647-13T>C	NP_000531.2:n.14647-13T>C
NM_001042723.1:c.14632-13T>C	NP_001036188.1:n.14632-13T>C
XM_006723317.1:c.14629-13T>C	XP_006723380.1:n.14629-13T>C
XM_006723319.1:c.14614-13T>C	XP_006723382.1:n.14614-13T>C
XM_011527204.1:c.14644-13T>C	XP_011525506.1:n.14644-13T>C
XM_011527205.1:c.14560-13T>C	XP_011525507.1:n.14560-13T>C
XM_006723317.2:c.14629-13T>C	XP_006723380.1:n.14629-13T>C
XM_006723319.2:c.14614-13T>C	XP_006723382.1:n.14614-13T>C
XM_011527205.2:c.14560-13T>C	XP_011525507.1:n.14560-13T>C
NM_000540.3:c.14647-13T>C MANE Select	NP_000531.2:n.14647-13T>C
NM_001042723.2:c.14632-13T>C	NP_001036188.1:n.14632-13T>C