Canonical Allele Identifier: CA507356042

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071030T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580390T>A , CM000681.2:g.38580390T>A	GRCh38
NC_000019.9:g.39071030T>A , CM000681.1:g.39071030T>A	GRCh37
NC_000019.8:g.43762870T>A	NCBI36
NG_008866.1:g.151691T>A , LRG_766:g.151691T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1468T>A
ENST00000688602.1:c.2865T>A
ENST00000689936.1:c.2837T>A
ENST00000359596.8:c.14532T>A MANE Select	ENSP00000352608.2:p.Leu4844=
ENST00000355481.8:c.14517T>A	ENSP00000347667.3:p.Leu4839=
ENST00000359596.7:c.14532T>A	ENSP00000352608.2:p.Leu4844=
ENST00000360985.7:c.14514T>A	ENSP00000354254.4:p.Leu4838=
NM_000540.2:c.14532T>A , LRG_766t1:c.14532T>A	NP_000531.2:p.Leu4844=
NM_001042723.1:c.14517T>A	NP_001036188.1:p.Leu4839=
XM_006723317.1:c.14514T>A	XP_006723380.1:p.Leu4838=
XM_006723319.1:c.14499T>A	XP_006723382.1:p.Leu4833=
XM_011527204.1:c.14529T>A	XP_011525506.1:p.Leu4843=
XM_011527205.1:c.14445T>A	XP_011525507.1:p.Leu4815=
XM_006723317.2:c.14514T>A	XP_006723380.1:p.Leu4838=
XM_006723319.2:c.14499T>A	XP_006723382.1:p.Leu4833=
XM_011527205.2:c.14445T>A	XP_011525507.1:p.Leu4815=
NM_000540.3:c.14532T>A MANE Select	NP_000531.2:p.Leu4844=
NM_001042723.2:c.14517T>A	NP_001036188.1:p.Leu4839=