Canonical Allele Identifier: CA1260958953

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450184A= , CM000664.2:g.73450184A=	GRCh38
NC_000002.11:g.73677311A= , CM000664.1:g.73677311A=	GRCh37
NC_000002.10:g.73530819A=	NCBI36
NG_011690.1:g.69432A= , LRG_741:g.69432A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3276A=	ENSP00000507671.1:p.Ser1092=
ENST00000682801.1:c.3276A=	ENSP00000507862.1:p.Ser1092=
ENST00000682859.1:c.3276A=	ENSP00000508222.1:p.Ser1092=
ENST00000683791.1:c.685+17893A=
ENST00000684460.1:c.728A=
ENST00000684548.1:c.3276A=	ENSP00000507421.1:p.Ser1092=
ENST00000684656.1:c.728A=
ENST00000613296.6:c.3657A= MANE Select	ENSP00000482968.1:p.Ser1219=
ENST00000484298.5:c.3531A=	ENSP00000478155.1:p.Ser1177=
ENST00000613296.4:c.3657A=	ENSP00000482968.1:p.Ser1219=
ENST00000614410.4:c.3657A=	ENSP00000479094.1:p.Ser1219=
NM_015120.4:c.3660A= , LRG_741t1:c.3660A=	NP_055935.4:p.Ser1220=
NM_001378454.1:c.3657A= MANE Select	NP_001365383.1:p.Ser1219=