Canonical Allele Identifier: CA2335082635

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561362G= , CM000681.2:g.38561362G=	GRCh38
NC_000019.9:g.39052002G= , CM000681.1:g.39052002G=	GRCh37
NC_000019.8:g.43743842G=	NCBI36
NG_008866.1:g.132663G= , LRG_766:g.132663G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.12532G= MANE Select	NP_000531.2:p.Gly4178=
ENST00000359596.8:c.12532G= MANE Select	ENSP00000352608.2:p.Gly4178=
NM_000540.2:c.12532G= , LRG_766t1:c.12532G=	NP_000531.2:p.Gly4178=
NM_001042723.1:c.12517G=	NP_001036188.1:p.Gly4173=
NM_001042723.2:c.12517G=	NP_001036188.1:p.Gly4173=
ENST00000355481.8:c.12517G=	ENSP00000347667.3:p.Gly4173=
ENST00000359596.7:c.12532G=	ENSP00000352608.2:p.Gly4178=
ENST00000360985.7:c.12514G=	ENSP00000354254.4:p.Gly4172=
ENST00000594335.5:c.5901G=
ENST00000688602.1:c.942G=
ENST00000689936.1:c.924G=
XM_006723317.1:c.12514G=	XP_006723380.1:p.Gly4172=
XM_006723317.2:c.12514G=	XP_006723380.1:p.Gly4172=
XM_006723319.1:c.12499G=	XP_006723382.1:p.Gly4167=
XM_006723319.2:c.12499G=	XP_006723382.1:p.Gly4167=
XM_011527204.1:c.12529G=	XP_011525506.1:p.Gly4177=
XM_011527205.1:c.12532G=	XP_011525507.1:p.Gly4178=
XM_011527205.2:c.12532G=	XP_011525507.1:p.Gly4178=