Canonical Allele Identifier: CA405691200

Gene: RYR1

Linked Data

• ClinVar Variation Id: 448180
• ClinVar RCV Id: RCV000518304
• dbSNP Id: rs1555805334
• MyVariant Identifiers: chr19:g.39075738G>C (hg19) ; chr19:g.38585098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585098G>C , CM000681.2:g.38585098G>C	GRCh38
NC_000019.9:g.39075738G>C , CM000681.1:g.39075738G>C	GRCh37
NC_000019.8:g.43767578G>C	NCBI36
NG_008866.1:g.156399G>C , LRG_766:g.156399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1738G>C
ENST00000688602.1:c.3135G>C
ENST00000689936.1:c.3107G>C
ENST00000692547.1:n.195G>C
ENST00000359596.8:c.14802G>C MANE Select	ENSP00000352608.2:p.Gln4934His
ENST00000355481.8:c.14787G>C	ENSP00000347667.3:p.Gln4929His
ENST00000359596.7:c.14802G>C	ENSP00000352608.2:p.Gln4934His
ENST00000360985.7:c.14784G>C	ENSP00000354254.4:p.Gln4928His
NM_000540.2:c.14802G>C , LRG_766t1:c.14802G>C	NP_000531.2:p.Gln4934His
NM_001042723.1:c.14787G>C	NP_001036188.1:p.Gln4929His
XM_006723317.1:c.14784G>C	XP_006723380.1:p.Gln4928His
XM_006723319.1:c.14769G>C	XP_006723382.1:p.Gln4923His
XM_011527204.1:c.14799G>C	XP_011525506.1:p.Gln4933His
XM_011527205.1:c.14715G>C	XP_011525507.1:p.Gln4905His
XM_006723317.2:c.14784G>C	XP_006723380.1:p.Gln4928His
XM_006723319.2:c.14769G>C	XP_006723382.1:p.Gln4923His
XM_011527205.2:c.14715G>C	XP_011525507.1:p.Gln4905His
NM_000540.3:c.14802G>C MANE Select	NP_000531.2:p.Gln4934His
NM_001042723.2:c.14787G>C	NP_001036188.1:p.Gln4929His