Canonical Allele Identifier: CA507354528

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39019243C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528603C>A , CM000681.2:g.38528603C>A	GRCh38
NC_000019.9:g.39019243C>A , CM000681.1:g.39019243C>A	GRCh37
NC_000019.8:g.43711083C>A	NCBI36
NG_008866.1:g.99904C>A , LRG_766:g.99904C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10881C>A	ENSP00000471601.2:n.10881C>A
ENST00000359596.8:c.10942C>A MANE Select	ENSP00000352608.2:p.Arg3648=
ENST00000355481.8:c.10927C>A	ENSP00000347667.3:p.Arg3643=
ENST00000359596.7:c.10942C>A	ENSP00000352608.2:p.Arg3648=
ENST00000360985.7:c.10924C>A	ENSP00000354254.4:p.Arg3642=
ENST00000594335.5:c.4329C>A
ENST00000599547.5:c.1749C>A
ENST00000601514.5:c.223C>A	ENSP00000472497.1:p.Arg75=
NM_000540.2:c.10942C>A , LRG_766t1:c.10942C>A	NP_000531.2:p.Arg3648=
NM_001042723.1:c.10927C>A	NP_001036188.1:p.Arg3643=
XM_006723317.1:c.10942C>A	XP_006723380.1:p.Arg3648=
XM_006723319.1:c.10927C>A	XP_006723382.1:p.Arg3643=
XM_011527204.1:c.10939C>A	XP_011525506.1:p.Arg3647=
XM_011527205.1:c.10942C>A	XP_011525507.1:p.Arg3648=
XM_006723317.2:c.10942C>A	XP_006723380.1:p.Arg3648=
XM_006723319.2:c.10927C>A	XP_006723382.1:p.Arg3643=
XM_011527205.2:c.10942C>A	XP_011525507.1:p.Arg3648=
NM_000540.3:c.10942C>A MANE Select	NP_000531.2:p.Arg3648=
NM_001042723.2:c.10927C>A	NP_001036188.1:p.Arg3643=