Canonical Allele Identifier: CA405674255

Gene: RYR1

Linked Data

• dbSNP Id: rs1437897040
• gnomAD v2: 19-39056173-G-A
• gnomAD v4: 19-38565533-G-A
• MyVariant Identifiers: chr19:g.39056173G>A (hg19) ; chr19:g.38565533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565533G>A , CM000681.2:g.38565533G>A	GRCh38
NC_000019.9:g.39056173G>A , CM000681.1:g.39056173G>A	GRCh37
NC_000019.8:g.43748013G>A	NCBI36
NG_008866.1:g.136834G>A , LRG_766:g.136834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.135G>A
ENST00000688602.1:c.1609G>A
ENST00000689936.1:c.1591G>A
ENST00000359596.8:c.13199G>A MANE Select	ENSP00000352608.2:p.Gly4400Asp
ENST00000355481.8:c.13184G>A	ENSP00000347667.3:p.Gly4395Asp
ENST00000359596.7:c.13199G>A	ENSP00000352608.2:p.Gly4400Asp
ENST00000360985.7:c.13181G>A	ENSP00000354254.4:p.Gly4394Asp
NM_000540.2:c.13199G>A , LRG_766t1:c.13199G>A	NP_000531.2:p.Gly4400Asp
NM_001042723.1:c.13184G>A	NP_001036188.1:p.Gly4395Asp
XM_006723317.1:c.13181G>A	XP_006723380.1:p.Gly4394Asp
XM_006723319.1:c.13166G>A	XP_006723382.1:p.Gly4389Asp
XM_011527204.1:c.13196G>A	XP_011525506.1:p.Gly4399Asp
XM_011527205.1:c.13199G>A	XP_011525507.1:p.Gly4400Asp
XM_006723317.2:c.13181G>A	XP_006723380.1:p.Gly4394Asp
XM_006723319.2:c.13166G>A	XP_006723382.1:p.Gly4389Asp
XM_011527205.2:c.13199G>A	XP_011525507.1:p.Gly4400Asp
NM_000540.3:c.13199G>A MANE Select	NP_000531.2:p.Gly4400Asp
NM_001042723.2:c.13184G>A	NP_001036188.1:p.Gly4395Asp