Canonical Allele Identifier: CA067690

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329043
• ClinVar RCV Id: RCV000272082 ; RCV000307113 ; RCV000397620 ; RCV000512722 ; RCV000535360 ; RCV000364152
• dbSNP Id: rs199947661
• ExAC: 19:38981268 T / C
• gnomAD v2: 19-38981268-T-C
• gnomAD v3: 19-38490628-T-C
• gnomAD v4: 19-38490628-T-C
• MyVariant Identifiers: chr19:g.38981268T>C (hg19) ; chr19:g.38490628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38490628T>C , CM000681.2:g.38490628T>C	GRCh38
NC_000019.9:g.38981268T>C , CM000681.1:g.38981268T>C	GRCh37
NC_000019.8:g.43673108T>C	NCBI36
NG_008866.1:g.61929T>C , LRG_766:g.61929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6023T>C	ENSP00000471601.2:p.Met2008Thr
ENST00000359596.8:c.6023T>C MANE Select	ENSP00000352608.2:p.Met2008Thr
ENST00000355481.8:c.6023T>C	ENSP00000347667.3:p.Met2008Thr
ENST00000359596.7:c.6023T>C	ENSP00000352608.2:p.Met2008Thr
ENST00000360985.7:c.6020T>C	ENSP00000354254.4:p.Met2007Thr
NM_000540.2:c.6023T>C , LRG_766t1:c.6023T>C	NP_000531.2:p.Met2008Thr
NM_001042723.1:c.6023T>C	NP_001036188.1:p.Met2008Thr
XM_006723317.1:c.6023T>C	XP_006723380.1:p.Met2008Thr
XM_006723319.1:c.6023T>C	XP_006723382.1:p.Met2008Thr
XM_011527204.1:c.6020T>C	XP_011525506.1:p.Met2007Thr
XM_011527205.1:c.6023T>C	XP_011525507.1:p.Met2008Thr
XM_006723317.2:c.6023T>C	XP_006723380.1:p.Met2008Thr
XM_006723319.2:c.6023T>C	XP_006723382.1:p.Met2008Thr
XM_011527205.2:c.6023T>C	XP_011525507.1:p.Met2008Thr
XR_001753735.1:n.6106T>C
NM_000540.3:c.6023T>C MANE Select	NP_000531.2:p.Met2008Thr
NM_001042723.2:c.6023T>C	NP_001036188.1:p.Met2008Thr