Canonical Allele Identifier: CA1261021032

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572389T= , CM000664.2:g.73572389T=	GRCh38
NC_000002.11:g.73799516T= , CM000664.1:g.73799516T=	GRCh37
NC_000002.10:g.73653024T=	NCBI36
NG_011690.1:g.191637T= , LRG_741:g.191637T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10131T=	ENSP00000507671.1:p.Ser3377=
ENST00000682801.1:c.10131T=	ENSP00000507862.1:p.Ser3377=
ENST00000682859.1:c.10131T=	ENSP00000508222.1:p.Ser3377=
ENST00000683791.1:c.3217T=
ENST00000684460.1:c.7412T=
ENST00000684548.1:c.10131T=	ENSP00000507421.1:p.Ser3377=
ENST00000684590.1:c.4578T=	ENSP00000507376.1:p.Ser1526=
ENST00000684656.1:c.7457T=
ENST00000613296.6:c.10512T= MANE Select	ENSP00000482968.1:p.Ser3504=
ENST00000651057.1:c.666T=	ENSP00000498504.1:p.Ser222=
ENST00000651434.1:c.1868T=
ENST00000652487.1:c.1609T=
ENST00000423048.5:c.4003T=	ENSP00000399833.1:n.4003T=
ENST00000484298.5:c.10386T=	ENSP00000478155.1:p.Ser3462=
ENST00000613296.4:c.10512T=	ENSP00000482968.1:p.Ser3504=
ENST00000614410.4:c.10512T=	ENSP00000479094.1:p.Ser3504=
ENST00000620466.4:n.4315T=
NM_015120.4:c.10515T= , LRG_741t1:c.10515T=	NP_055935.4:p.Ser3505=
NM_001378454.1:c.10512T= MANE Select	NP_001365383.1:p.Ser3504=