Canonical Allele Identifier: CA057954

Gene: RYR1

Linked Data

• dbSNP Id: rs753344189
• ExAC: 19:39034468 G / A
• gnomAD v2: 19-39034468-G-A
• gnomAD v4: 19-38543828-G-A
• MyVariant Identifiers: chr19:g.39034468G>A (hg19) ; chr19:g.38543828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543828G>A , CM000681.2:g.38543828G>A	GRCh38
NC_000019.9:g.39034468G>A , CM000681.1:g.39034468G>A	GRCh37
NC_000019.8:g.43726308G>A	NCBI36
NG_008866.1:g.115129G>A , LRG_766:g.115129G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.375G>A
ENST00000689936.1:c.357G>A
ENST00000359596.8:c.11965G>A MANE Select	ENSP00000352608.2:p.Val3989Met
ENST00000355481.8:c.11950G>A	ENSP00000347667.3:p.Val3984Met
ENST00000359596.7:c.11965G>A	ENSP00000352608.2:p.Val3989Met
ENST00000360985.7:c.11947G>A	ENSP00000354254.4:p.Val3983Met
ENST00000593322.1:c.574G>A
ENST00000594335.5:c.5334G>A
NM_000540.2:c.11965G>A , LRG_766t1:c.11965G>A	NP_000531.2:p.Val3989Met
NM_001042723.1:c.11950G>A	NP_001036188.1:p.Val3984Met
XM_006723317.1:c.11947G>A	XP_006723380.1:p.Val3983Met
XM_006723319.1:c.11932G>A	XP_006723382.1:p.Val3978Met
XM_011527204.1:c.11962G>A	XP_011525506.1:p.Val3988Met
XM_011527205.1:c.11965G>A	XP_011525507.1:p.Val3989Met
XM_006723317.2:c.11947G>A	XP_006723380.1:p.Val3983Met
XM_006723319.2:c.11932G>A	XP_006723382.1:p.Val3978Met
XM_011527205.2:c.11965G>A	XP_011525507.1:p.Val3989Met
NM_000540.3:c.11965G>A MANE Select	NP_000531.2:p.Val3989Met
NM_001042723.2:c.11950G>A	NP_001036188.1:p.Val3984Met