Canonical Allele Identifier: CA405693081

Gene: RYR1

Linked Data

• dbSNP Id: rs200777598
• gnomAD v4: 19-38586151-G-A
• COSMIC: COSM711590
• MyVariant Identifiers: chr19:g.39076791G>A (hg19) ; chr19:g.38586151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586151G>A , CM000681.2:g.38586151G>A	GRCh38
NC_000019.9:g.39076791G>A , CM000681.1:g.39076791G>A	GRCh37
NC_000019.8:g.43768631G>A	NCBI36
NG_008866.1:g.157452G>A , LRG_766:g.157452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1865G>A
ENST00000688602.1:c.3262G>A
ENST00000689936.1:c.3234G>A
ENST00000692547.1:n.322G>A
ENST00000359596.8:c.14929G>A MANE Select	ENSP00000352608.2:p.Glu4977Lys
ENST00000355481.8:c.14914G>A	ENSP00000347667.3:p.Glu4972Lys
ENST00000359596.7:c.14929G>A	ENSP00000352608.2:p.Glu4977Lys
ENST00000360985.7:c.14911G>A	ENSP00000354254.4:p.Glu4971Lys
NM_000540.2:c.14929G>A , LRG_766t1:c.14929G>A	NP_000531.2:p.Glu4977Lys
NM_001042723.1:c.14914G>A	NP_001036188.1:p.Glu4972Lys
XM_006723317.1:c.14911G>A	XP_006723380.1:p.Glu4971Lys
XM_006723319.1:c.14896G>A	XP_006723382.1:p.Glu4966Lys
XM_011527204.1:c.14926G>A	XP_011525506.1:p.Glu4976Lys
XM_011527205.1:c.14842G>A	XP_011525507.1:p.Glu4948Lys
XM_006723317.2:c.14911G>A	XP_006723380.1:p.Glu4971Lys
XM_006723319.2:c.14896G>A	XP_006723382.1:p.Glu4966Lys
XM_011527205.2:c.14842G>A	XP_011525507.1:p.Glu4948Lys
NM_000540.3:c.14929G>A MANE Select	NP_000531.2:p.Glu4977Lys
NM_001042723.2:c.14914G>A	NP_001036188.1:p.Glu4972Lys