Canonical Allele Identifier: CA405686864

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2904708
• ClinVar RCV Id: RCV003756955
• gnomAD v4: 19-38580001-G-A
• MyVariant Identifiers: chr19:g.39070641G>A (hg19) ; chr19:g.38580001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580001G>A , CM000681.2:g.38580001G>A	GRCh38
NC_000019.9:g.39070641G>A , CM000681.1:g.39070641G>A	GRCh37
NC_000019.8:g.43762481G>A	NCBI36
NG_008866.1:g.151302G>A , LRG_766:g.151302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1320G>A
ENST00000688602.1:c.2717G>A
ENST00000689936.1:c.2689G>A
ENST00000359596.8:c.14384G>A MANE Select	ENSP00000352608.2:p.Trp4795Ter
ENST00000355481.8:c.14369G>A	ENSP00000347667.3:p.Trp4790Ter
ENST00000359596.7:c.14384G>A	ENSP00000352608.2:p.Trp4795Ter
ENST00000360985.7:c.14366G>A	ENSP00000354254.4:p.Trp4789Ter
NM_000540.2:c.14384G>A , LRG_766t1:c.14384G>A	NP_000531.2:p.Trp4795Ter
NM_001042723.1:c.14369G>A	NP_001036188.1:p.Trp4790Ter
XM_006723317.1:c.14366G>A	XP_006723380.1:p.Trp4789Ter
XM_006723319.1:c.14351G>A	XP_006723382.1:p.Trp4784Ter
XM_011527204.1:c.14381G>A	XP_011525506.1:p.Trp4794Ter
XM_011527205.1:c.14297G>A	XP_011525507.1:p.Trp4766Ter
XM_006723317.2:c.14366G>A	XP_006723380.1:p.Trp4789Ter
XM_006723319.2:c.14351G>A	XP_006723382.1:p.Trp4784Ter
XM_011527205.2:c.14297G>A	XP_011525507.1:p.Trp4766Ter
NM_000540.3:c.14384G>A MANE Select	NP_000531.2:p.Trp4795Ter
NM_001042723.2:c.14369G>A	NP_001036188.1:p.Trp4790Ter