Canonical Allele Identifier: CA507356168

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062845C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572205C>A , CM000681.2:g.38572205C>A	GRCh38
NC_000019.9:g.39062845C>A , CM000681.1:g.39062845C>A	GRCh37
NC_000019.8:g.43754685C>A	NCBI36
NG_008866.1:g.143506C>A , LRG_766:g.143506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.869C>A
ENST00000688602.1:c.2266C>A
ENST00000689936.1:c.2238C>A
ENST00000359596.8:c.13933C>A MANE Select	ENSP00000352608.2:p.Arg4645=
ENST00000355481.8:c.13918C>A	ENSP00000347667.3:p.Arg4640=
ENST00000359596.7:c.13933C>A	ENSP00000352608.2:p.Arg4645=
ENST00000360985.7:c.13915C>A	ENSP00000354254.4:p.Arg4639=
ENST00000593677.1:c.393C>A
NM_000540.2:c.13933C>A , LRG_766t1:c.13933C>A	NP_000531.2:p.Arg4645=
NM_001042723.1:c.13918C>A	NP_001036188.1:p.Arg4640=
XM_006723317.1:c.13915C>A	XP_006723380.1:p.Arg4639=
XM_006723319.1:c.13900C>A	XP_006723382.1:p.Arg4634=
XM_011527204.1:c.13930C>A	XP_011525506.1:p.Arg4644=
XM_011527205.1:c.13846C>A	XP_011525507.1:p.Arg4616=
XM_006723317.2:c.13915C>A	XP_006723380.1:p.Arg4639=
XM_006723319.2:c.13900C>A	XP_006723382.1:p.Arg4634=
XM_011527205.2:c.13846C>A	XP_011525507.1:p.Arg4616=
NM_000540.3:c.13933C>A MANE Select	NP_000531.2:p.Arg4645=
NM_001042723.2:c.13918C>A	NP_001036188.1:p.Arg4640=