Canonical Allele Identifier: CA507246355

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075639G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584999G>A , CM000681.2:g.38584999G>A	GRCh38
NC_000019.9:g.39075639G>A , CM000681.1:g.39075639G>A	GRCh37
NC_000019.8:g.43767479G>A	NCBI36
NG_008866.1:g.156300G>A , LRG_766:g.156300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1639G>A
ENST00000688602.1:c.3036G>A
ENST00000689936.1:c.3008G>A
ENST00000692547.1:n.96G>A
ENST00000359596.8:c.14703G>A MANE Select	ENSP00000352608.2:p.Glu4901=
ENST00000355481.8:c.14688G>A	ENSP00000347667.3:p.Glu4896=
ENST00000359596.7:c.14703G>A	ENSP00000352608.2:p.Glu4901=
ENST00000360985.7:c.14685G>A	ENSP00000354254.4:p.Glu4895=
NM_000540.2:c.14703G>A , LRG_766t1:c.14703G>A	NP_000531.2:p.Glu4901=
NM_001042723.1:c.14688G>A	NP_001036188.1:p.Glu4896=
XM_006723317.1:c.14685G>A	XP_006723380.1:p.Glu4895=
XM_006723319.1:c.14670G>A	XP_006723382.1:p.Glu4890=
XM_011527204.1:c.14700G>A	XP_011525506.1:p.Glu4900=
XM_011527205.1:c.14616G>A	XP_011525507.1:p.Glu4872=
XM_006723317.2:c.14685G>A	XP_006723380.1:p.Glu4895=
XM_006723319.2:c.14670G>A	XP_006723382.1:p.Glu4890=
XM_011527205.2:c.14616G>A	XP_011525507.1:p.Glu4872=
NM_000540.3:c.14703G>A MANE Select	NP_000531.2:p.Glu4901=
NM_001042723.2:c.14688G>A	NP_001036188.1:p.Glu4896=