Canonical Allele Identifier: CA405670833

Gene: RYR1

Linked Data

• gnomAD v4: 19-38564982-C-A
• MyVariant Identifiers: chr19:g.39055622C>A (hg19) ; chr19:g.38564982C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564982C>A , CM000681.2:g.38564982C>A	GRCh38
NC_000019.9:g.39055622C>A , CM000681.1:g.39055622C>A	GRCh37
NC_000019.8:g.43747462C>A	NCBI36
NG_008866.1:g.136283C>A , LRG_766:g.136283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1058C>A
ENST00000689936.1:c.1040C>A
ENST00000359596.8:c.12648C>A MANE Select	ENSP00000352608.2:p.Phe4216Leu
ENST00000355481.8:c.12633C>A	ENSP00000347667.3:p.Phe4211Leu
ENST00000359596.7:c.12648C>A	ENSP00000352608.2:p.Phe4216Leu
ENST00000360985.7:c.12630C>A	ENSP00000354254.4:p.Phe4210Leu
ENST00000594335.5:c.6017C>A
NM_000540.2:c.12648C>A , LRG_766t1:c.12648C>A	NP_000531.2:p.Phe4216Leu
NM_001042723.1:c.12633C>A	NP_001036188.1:p.Phe4211Leu
XM_006723317.1:c.12630C>A	XP_006723380.1:p.Phe4210Leu
XM_006723319.1:c.12615C>A	XP_006723382.1:p.Phe4205Leu
XM_011527204.1:c.12645C>A	XP_011525506.1:p.Phe4215Leu
XM_011527205.1:c.12648C>A	XP_011525507.1:p.Phe4216Leu
XM_006723317.2:c.12630C>A	XP_006723380.1:p.Phe4210Leu
XM_006723319.2:c.12615C>A	XP_006723382.1:p.Phe4205Leu
XM_011527205.2:c.12648C>A	XP_011525507.1:p.Phe4216Leu
NM_000540.3:c.12648C>A MANE Select	NP_000531.2:p.Phe4216Leu
NM_001042723.2:c.12633C>A	NP_001036188.1:p.Phe4211Leu