Canonical Allele Identifier: CA405693770

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590488
• ClinVar RCV Id: RCV000721427
• dbSNP Id: rs1568450391
• MyVariant Identifiers: chr19:g.38948164G>A (hg19) ; chr19:g.38457524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457524G>A , CM000681.2:g.38457524G>A	GRCh38
NC_000019.9:g.38948164G>A , CM000681.1:g.38948164G>A	GRCh37
NC_000019.8:g.43640004G>A	NCBI36
NG_008866.1:g.28825G>A , LRG_766:g.28825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1819G>A	ENSP00000471601.2:p.Val607Met
ENST00000359596.8:c.1819G>A MANE Select	ENSP00000352608.2:p.Val607Met
ENST00000355481.8:c.1819G>A	ENSP00000347667.3:p.Val607Met
ENST00000359596.7:c.1819G>A	ENSP00000352608.2:p.Val607Met
ENST00000360985.7:c.1819G>A	ENSP00000354254.4:p.Val607Met
NM_000540.2:c.1819G>A , LRG_766t1:c.1819G>A	NP_000531.2:p.Val607Met
NM_001042723.1:c.1819G>A	NP_001036188.1:p.Val607Met
XM_006723317.1:c.1819G>A	XP_006723380.1:p.Val607Met
XM_006723319.1:c.1819G>A	XP_006723382.1:p.Val607Met
XM_011527204.1:c.1816G>A	XP_011525506.1:p.Val606Met
XM_011527205.1:c.1819G>A	XP_011525507.1:p.Val607Met
XM_006723317.2:c.1819G>A	XP_006723380.1:p.Val607Met
XM_006723319.2:c.1819G>A	XP_006723382.1:p.Val607Met
XM_011527205.2:c.1819G>A	XP_011525507.1:p.Val607Met
XR_001753735.1:n.1902G>A
NM_000540.3:c.1819G>A MANE Select	NP_000531.2:p.Val607Met
NM_001042723.2:c.1819G>A	NP_001036188.1:p.Val607Met