Canonical Allele Identifier: CA212107

Gene: RYR1

Linked Data

• ClinVar Variation Id: 224408
• ClinVar RCV Id: RCV000210005 ; RCV000497700
• dbSNP Id: rs200777598
• MyVariant Identifiers: chr19:g.39076791G>C (hg19) ; chr19:g.38586151G>C (hg38)
• PubMed: PMID:24195946

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586151G>C , CM000681.2:g.38586151G>C	GRCh38
NC_000019.9:g.39076791G>C , CM000681.1:g.39076791G>C	GRCh37
NC_000019.8:g.43768631G>C	NCBI36
NG_008866.1:g.157452G>C , LRG_766:g.157452G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1865G>C
ENST00000688602.1:c.3262G>C
ENST00000689936.1:c.3234G>C
ENST00000692547.1:n.322G>C
ENST00000359596.8:c.14929G>C MANE Select	ENSP00000352608.2:p.Glu4977Gln
ENST00000355481.8:c.14914G>C	ENSP00000347667.3:p.Glu4972Gln
ENST00000359596.7:c.14929G>C	ENSP00000352608.2:p.Glu4977Gln
ENST00000360985.7:c.14911G>C	ENSP00000354254.4:p.Glu4971Gln
NM_000540.2:c.14929G>C , LRG_766t1:c.14929G>C	NP_000531.2:p.Glu4977Gln
NM_001042723.1:c.14914G>C	NP_001036188.1:p.Glu4972Gln
XM_006723317.1:c.14911G>C	XP_006723380.1:p.Glu4971Gln
XM_006723319.1:c.14896G>C	XP_006723382.1:p.Glu4966Gln
XM_011527204.1:c.14926G>C	XP_011525506.1:p.Glu4976Gln
XM_011527205.1:c.14842G>C	XP_011525507.1:p.Glu4948Gln
XM_006723317.2:c.14911G>C	XP_006723380.1:p.Glu4971Gln
XM_006723319.2:c.14896G>C	XP_006723382.1:p.Glu4966Gln
XM_011527205.2:c.14842G>C	XP_011525507.1:p.Glu4948Gln
NM_000540.3:c.14929G>C MANE Select	NP_000531.2:p.Glu4977Gln
NM_001042723.2:c.14914G>C	NP_001036188.1:p.Glu4972Gln