Canonical Allele Identifier: CA1261034112

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601415A= , CM000664.2:g.73601415A=	GRCh38
NC_000002.11:g.73828542A= , CM000664.1:g.73828542A=	GRCh37
NC_000002.10:g.73682050A=	NCBI36
NG_011690.1:g.220663A= , LRG_741:g.220663A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11712A=	ENSP00000507671.1:p.Pro3904=
ENST00000682801.1:c.11167-770A=	ENSP00000507862.1:n.11167-770A=
ENST00000682859.1:c.11712A=	ENSP00000508222.1:p.Pro3904=
ENST00000683791.1:c.4798A=
ENST00000684460.1:c.8993A=
ENST00000684548.1:c.11712A=	ENSP00000507421.1:p.Pro3904=
ENST00000684590.1:c.6159A=	ENSP00000507376.1:p.Pro2053=
ENST00000684656.1:c.9177A=
ENST00000613296.6:c.12093A= MANE Select	ENSP00000482968.1:p.Pro4031=
ENST00000651057.1:c.2247A=	ENSP00000498504.1:p.Pro749=
ENST00000651434.1:c.3449A=
ENST00000651750.1:c.1260+534A=
ENST00000652487.1:c.3264A=
ENST00000464408.3:n.268A=
ENST00000484298.5:c.11967A=	ENSP00000478155.1:p.Pro3989=
ENST00000613296.4:c.12093A=	ENSP00000482968.1:p.Pro4031=
ENST00000620466.4:n.5896A=
NM_015120.4:c.12096A= , LRG_741t1:c.12096A=	NP_055935.4:p.Pro4032=
NM_001378454.1:c.12093A= MANE Select	NP_001365383.1:p.Pro4031=