Canonical Allele Identifier: CA023960

Gene: RYR1

Linked Data

• ClinVar Variation Id: 42099
• ClinVar RCV Id: RCV000034926 ; RCV000056214 ; RCV000119451
• dbSNP Id: rs118192117
• ExAC: 19:38942486 T / C
• gnomAD v2: 19-38942486-T-C
• gnomAD v4: 19-38451846-T-C
• MyVariant Identifiers: chr19:g.38942486T>C (hg19) ; chr19:g.38451846T>C (hg38)
• PubMed: PMID:17033962 ; PMID:20301436 ; PMID:20301565 ; PMID:20583297

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38451846T>C , CM000681.2:g.38451846T>C	GRCh38
NC_000019.9:g.38942486T>C , CM000681.1:g.38942486T>C	GRCh37
NC_000019.8:g.43634326T>C	NCBI36
NG_008866.1:g.23147T>C , LRG_766:g.23147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1205T>C	ENSP00000471601.2:p.Met402Thr
ENST00000359596.8:c.1205T>C MANE Select	ENSP00000352608.2:p.Met402Thr
ENST00000355481.8:c.1205T>C	ENSP00000347667.3:p.Met402Thr
ENST00000359596.7:c.1205T>C	ENSP00000352608.2:p.Met402Thr
ENST00000360985.7:c.1205T>C	ENSP00000354254.4:p.Met402Thr
NM_000540.2:c.1205T>C , LRG_766t1:c.1205T>C	NP_000531.2:p.Met402Thr
NM_001042723.1:c.1205T>C	NP_001036188.1:p.Met402Thr
XM_006723317.1:c.1205T>C	XP_006723380.1:p.Met402Thr
XM_006723319.1:c.1205T>C	XP_006723382.1:p.Met402Thr
XM_011527204.1:c.1202T>C	XP_011525506.1:p.Met401Thr
XM_011527205.1:c.1205T>C	XP_011525507.1:p.Met402Thr
XM_006723317.2:c.1205T>C	XP_006723380.1:p.Met402Thr
XM_006723319.2:c.1205T>C	XP_006723382.1:p.Met402Thr
XM_011527205.2:c.1205T>C	XP_011525507.1:p.Met402Thr
XR_001753735.1:n.1288T>C
NM_000540.3:c.1205T>C MANE Select	NP_000531.2:p.Met402Thr
NM_001042723.2:c.1205T>C	NP_001036188.1:p.Met402Thr