Canonical Allele Identifier: CA405687765

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580435-C-A
• MyVariant Identifiers: chr19:g.39071075C>A (hg19) ; chr19:g.38580435C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580435C>A , CM000681.2:g.38580435C>A	GRCh38
NC_000019.9:g.39071075C>A , CM000681.1:g.39071075C>A	GRCh37
NC_000019.8:g.43762915C>A	NCBI36
NG_008866.1:g.151736C>A , LRG_766:g.151736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1513C>A
ENST00000688602.1:c.2910C>A
ENST00000689936.1:c.2882C>A
ENST00000359596.8:c.14577C>A MANE Select	ENSP00000352608.2:p.Phe4859Leu
ENST00000355481.8:c.14562C>A	ENSP00000347667.3:p.Phe4854Leu
ENST00000359596.7:c.14577C>A	ENSP00000352608.2:p.Phe4859Leu
ENST00000360985.7:c.14559C>A	ENSP00000354254.4:p.Phe4853Leu
NM_000540.2:c.14577C>A , LRG_766t1:c.14577C>A	NP_000531.2:p.Phe4859Leu
NM_001042723.1:c.14562C>A	NP_001036188.1:p.Phe4854Leu
XM_006723317.1:c.14559C>A	XP_006723380.1:p.Phe4853Leu
XM_006723319.1:c.14544C>A	XP_006723382.1:p.Phe4848Leu
XM_011527204.1:c.14574C>A	XP_011525506.1:p.Phe4858Leu
XM_011527205.1:c.14490C>A	XP_011525507.1:p.Phe4830Leu
XM_006723317.2:c.14559C>A	XP_006723380.1:p.Phe4853Leu
XM_006723319.2:c.14544C>A	XP_006723382.1:p.Phe4848Leu
XM_011527205.2:c.14490C>A	XP_011525507.1:p.Phe4830Leu
NM_000540.3:c.14577C>A MANE Select	NP_000531.2:p.Phe4859Leu
NM_001042723.2:c.14562C>A	NP_001036188.1:p.Phe4854Leu