Canonical Allele Identifier: CA1261033917

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601346G= , CM000664.2:g.73601346G=	GRCh38
NC_000002.11:g.73828473G= , CM000664.1:g.73828473G=	GRCh37
NC_000002.10:g.73681981G=	NCBI36
NG_011690.1:g.220594G= , LRG_741:g.220594G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11643G=	ENSP00000507671.1:p.Gly3881=
ENST00000682801.1:c.11167-839G=	ENSP00000507862.1:n.11167-839G=
ENST00000682859.1:c.11643G=	ENSP00000508222.1:p.Gly3881=
ENST00000683791.1:c.4729G=
ENST00000684460.1:c.8924G=
ENST00000684548.1:c.11643G=	ENSP00000507421.1:p.Gly3881=
ENST00000684590.1:c.6090G=	ENSP00000507376.1:p.Gly2030=
ENST00000684656.1:c.9108G=
ENST00000613296.6:c.12024G= MANE Select	ENSP00000482968.1:p.Gly4008=
ENST00000651057.1:c.2178G=	ENSP00000498504.1:p.Gly726=
ENST00000651434.1:c.3380G=
ENST00000651750.1:c.1260+465G=
ENST00000652487.1:c.3195G=
ENST00000464408.3:n.199G=
ENST00000484298.5:c.11898G=	ENSP00000478155.1:p.Gly3966=
ENST00000613296.4:c.12024G=	ENSP00000482968.1:p.Gly4008=
ENST00000620466.4:n.5827G=
NM_015120.4:c.12027G= , LRG_741t1:c.12027G=	NP_055935.4:p.Gly4009=
NM_001378454.1:c.12024G= MANE Select	NP_001365383.1:p.Gly4008=