Canonical Allele Identifier: CA405671005

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565056-T-A
• MyVariant Identifiers: chr19:g.39055696T>A (hg19) ; chr19:g.38565056T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565056T>A , CM000681.2:g.38565056T>A	GRCh38
NC_000019.9:g.39055696T>A , CM000681.1:g.39055696T>A	GRCh37
NC_000019.8:g.43747536T>A	NCBI36
NG_008866.1:g.136357T>A , LRG_766:g.136357T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1132T>A
ENST00000689936.1:c.1114T>A
ENST00000359596.8:c.12722T>A MANE Select	ENSP00000352608.2:p.Ile4241Asn
ENST00000355481.8:c.12707T>A	ENSP00000347667.3:p.Ile4236Asn
ENST00000359596.7:c.12722T>A	ENSP00000352608.2:p.Ile4241Asn
ENST00000360985.7:c.12704T>A	ENSP00000354254.4:p.Ile4235Asn
ENST00000594335.5:c.6091T>A
NM_000540.2:c.12722T>A , LRG_766t1:c.12722T>A	NP_000531.2:p.Ile4241Asn
NM_001042723.1:c.12707T>A	NP_001036188.1:p.Ile4236Asn
XM_006723317.1:c.12704T>A	XP_006723380.1:p.Ile4235Asn
XM_006723319.1:c.12689T>A	XP_006723382.1:p.Ile4230Asn
XM_011527204.1:c.12719T>A	XP_011525506.1:p.Ile4240Asn
XM_011527205.1:c.12722T>A	XP_011525507.1:p.Ile4241Asn
XM_006723317.2:c.12704T>A	XP_006723380.1:p.Ile4235Asn
XM_006723319.2:c.12689T>A	XP_006723382.1:p.Ile4230Asn
XM_011527205.2:c.12722T>A	XP_011525507.1:p.Ile4241Asn
NM_000540.3:c.12722T>A MANE Select	NP_000531.2:p.Ile4241Asn
NM_001042723.2:c.12707T>A	NP_001036188.1:p.Ile4236Asn