Canonical Allele Identifier: CA507356149

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071114A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580474A>G , CM000681.2:g.38580474A>G	GRCh38
NC_000019.9:g.39071114A>G , CM000681.1:g.39071114A>G	GRCh37
NC_000019.8:g.43762954A>G	NCBI36
NG_008866.1:g.151775A>G , LRG_766:g.151775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1552A>G
ENST00000688602.1:c.2949A>G
ENST00000689936.1:c.2921A>G
ENST00000359596.8:c.14616A>G MANE Select	ENSP00000352608.2:p.Glu4872=
ENST00000355481.8:c.14601A>G	ENSP00000347667.3:p.Glu4867=
ENST00000359596.7:c.14616A>G	ENSP00000352608.2:p.Glu4872=
ENST00000360985.7:c.14598A>G	ENSP00000354254.4:p.Glu4866=
NM_000540.2:c.14616A>G , LRG_766t1:c.14616A>G	NP_000531.2:p.Glu4872=
NM_001042723.1:c.14601A>G	NP_001036188.1:p.Glu4867=
XM_006723317.1:c.14598A>G	XP_006723380.1:p.Glu4866=
XM_006723319.1:c.14583A>G	XP_006723382.1:p.Glu4861=
XM_011527204.1:c.14613A>G	XP_011525506.1:p.Glu4871=
XM_011527205.1:c.14529A>G	XP_011525507.1:p.Glu4843=
XM_006723317.2:c.14598A>G	XP_006723380.1:p.Glu4866=
XM_006723319.2:c.14583A>G	XP_006723382.1:p.Glu4861=
XM_011527205.2:c.14529A>G	XP_011525507.1:p.Glu4843=
NM_000540.3:c.14616A>G MANE Select	NP_000531.2:p.Glu4872=
NM_001042723.2:c.14601A>G	NP_001036188.1:p.Glu4867=