Canonical Allele Identifier: CA1261034053

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601402A= , CM000664.2:g.73601402A=	GRCh38
NC_000002.11:g.73828529A= , CM000664.1:g.73828529A=	GRCh37
NC_000002.10:g.73682037A=	NCBI36
NG_011690.1:g.220650A= , LRG_741:g.220650A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11699A=	ENSP00000507671.1:p.Asp3900=
ENST00000682801.1:c.11167-783A=	ENSP00000507862.1:n.11167-783A=
ENST00000682859.1:c.11699A=	ENSP00000508222.1:p.Asp3900=
ENST00000683791.1:c.4785A=
ENST00000684460.1:c.8980A=
ENST00000684548.1:c.11699A=	ENSP00000507421.1:p.Asp3900=
ENST00000684590.1:c.6146A=	ENSP00000507376.1:p.Asp2049=
ENST00000684656.1:c.9164A=
ENST00000613296.6:c.12080A= MANE Select	ENSP00000482968.1:p.Asp4027=
ENST00000651057.1:c.2234A=	ENSP00000498504.1:p.Asp745=
ENST00000651434.1:c.3436A=
ENST00000651750.1:c.1260+521A=
ENST00000652487.1:c.3251A=
ENST00000464408.3:n.255A=
ENST00000484298.5:c.11954A=	ENSP00000478155.1:p.Asp3985=
ENST00000613296.4:c.12080A=	ENSP00000482968.1:p.Asp4027=
ENST00000620466.4:n.5883A=
NM_015120.4:c.12083A= , LRG_741t1:c.12083A=	NP_055935.4:p.Asp4028=
NM_001378454.1:c.12080A= MANE Select	NP_001365383.1:p.Asp4027=