Canonical Allele Identifier: CA405679920

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062665G>A (hg19) ; chr19:g.38572025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572025G>A , CM000681.2:g.38572025G>A	GRCh38
NC_000019.9:g.39062665G>A , CM000681.1:g.39062665G>A	GRCh37
NC_000019.8:g.43754505G>A	NCBI36
NG_008866.1:g.143326G>A , LRG_766:g.143326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.689G>A
ENST00000688602.1:c.2086G>A
ENST00000689936.1:c.2058G>A
ENST00000359596.8:c.13753G>A MANE Select	ENSP00000352608.2:p.Asp4585Asn
ENST00000355481.8:c.13738G>A	ENSP00000347667.3:p.Asp4580Asn
ENST00000359596.7:c.13753G>A	ENSP00000352608.2:p.Asp4585Asn
ENST00000360985.7:c.13735G>A	ENSP00000354254.4:p.Asp4579Asn
ENST00000593677.1:c.213G>A
NM_000540.2:c.13753G>A , LRG_766t1:c.13753G>A	NP_000531.2:p.Asp4585Asn
NM_001042723.1:c.13738G>A	NP_001036188.1:p.Asp4580Asn
XM_006723317.1:c.13735G>A	XP_006723380.1:p.Asp4579Asn
XM_006723319.1:c.13720G>A	XP_006723382.1:p.Asp4574Asn
XM_011527204.1:c.13750G>A	XP_011525506.1:p.Asp4584Asn
XM_011527205.1:c.13666G>A	XP_011525507.1:p.Asp4556Asn
XM_006723317.2:c.13735G>A	XP_006723380.1:p.Asp4579Asn
XM_006723319.2:c.13720G>A	XP_006723382.1:p.Asp4574Asn
XM_011527205.2:c.13666G>A	XP_011525507.1:p.Asp4556Asn
NM_000540.3:c.13753G>A MANE Select	NP_000531.2:p.Asp4585Asn
NM_001042723.2:c.13738G>A	NP_001036188.1:p.Asp4580Asn