Canonical Allele Identifier: CA405687059

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580042-T-A
• MyVariant Identifiers: chr19:g.39070682T>A (hg19) ; chr19:g.38580042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580042T>A , CM000681.2:g.38580042T>A	GRCh38
NC_000019.9:g.39070682T>A , CM000681.1:g.39070682T>A	GRCh37
NC_000019.8:g.43762522T>A	NCBI36
NG_008866.1:g.151343T>A , LRG_766:g.151343T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1361T>A
ENST00000688602.1:c.2758T>A
ENST00000689936.1:c.2730T>A
ENST00000359596.8:c.14425T>A MANE Select	ENSP00000352608.2:p.Phe4809Ile
ENST00000355481.8:c.14410T>A	ENSP00000347667.3:p.Phe4804Ile
ENST00000359596.7:c.14425T>A	ENSP00000352608.2:p.Phe4809Ile
ENST00000360985.7:c.14407T>A	ENSP00000354254.4:p.Phe4803Ile
NM_000540.2:c.14425T>A , LRG_766t1:c.14425T>A	NP_000531.2:p.Phe4809Ile
NM_001042723.1:c.14410T>A	NP_001036188.1:p.Phe4804Ile
XM_006723317.1:c.14407T>A	XP_006723380.1:p.Phe4803Ile
XM_006723319.1:c.14392T>A	XP_006723382.1:p.Phe4798Ile
XM_011527204.1:c.14422T>A	XP_011525506.1:p.Phe4808Ile
XM_011527205.1:c.14338T>A	XP_011525507.1:p.Phe4780Ile
XM_006723317.2:c.14407T>A	XP_006723380.1:p.Phe4803Ile
XM_006723319.2:c.14392T>A	XP_006723382.1:p.Phe4798Ile
XM_011527205.2:c.14338T>A	XP_011525507.1:p.Phe4780Ile
NM_000540.3:c.14425T>A MANE Select	NP_000531.2:p.Phe4809Ile
NM_001042723.2:c.14410T>A	NP_001036188.1:p.Phe4804Ile