Canonical Allele Identifier: CA507244268

Gene: RYR1

Linked Data

• gnomAD v4: 19-38504319-C-A
• MyVariant Identifiers: chr19:g.38994959C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38504319C>A , CM000681.2:g.38504319C>A	GRCh38
NC_000019.9:g.38994959C>A , CM000681.1:g.38994959C>A	GRCh37
NC_000019.8:g.43686799C>A	NCBI36
NG_008866.1:g.75620C>A , LRG_766:g.75620C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.8026C>A	ENSP00000471601.2:p.Arg2676=
ENST00000359596.8:c.8026C>A MANE Select	ENSP00000352608.2:p.Arg2676=
ENST00000355481.8:c.8026C>A	ENSP00000347667.3:p.Arg2676=
ENST00000359596.7:c.8026C>A	ENSP00000352608.2:p.Arg2676=
ENST00000360985.7:c.8023C>A	ENSP00000354254.4:p.Arg2675=
ENST00000594335.5:c.1478C>A
NM_000540.2:c.8026C>A , LRG_766t1:c.8026C>A	NP_000531.2:p.Arg2676=
NM_001042723.1:c.8026C>A	NP_001036188.1:p.Arg2676=
XM_006723317.1:c.8026C>A	XP_006723380.1:p.Arg2676=
XM_006723319.1:c.8026C>A	XP_006723382.1:p.Arg2676=
XM_011527204.1:c.8023C>A	XP_011525506.1:p.Arg2675=
XM_011527205.1:c.8026C>A	XP_011525507.1:p.Arg2676=
XM_006723317.2:c.8026C>A	XP_006723380.1:p.Arg2676=
XM_006723319.2:c.8026C>A	XP_006723382.1:p.Arg2676=
XM_011527205.2:c.8026C>A	XP_011525507.1:p.Arg2676=
XR_001753735.1:n.8109C>A
NM_000540.3:c.8026C>A MANE Select	NP_000531.2:p.Arg2676=
NM_001042723.2:c.8026C>A	NP_001036188.1:p.Arg2676=