Canonical Allele Identifier: CA347269109

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490449T>A , CM000664.2:g.73490449T>A	GRCh38
NC_000002.11:g.73717576T>A , CM000664.1:g.73717576T>A	GRCh37
NC_000002.10:g.73571084T>A	NCBI36
NG_011690.1:g.109697T>A , LRG_741:g.109697T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8490T>A MANE Select	NP_001365383.1:p.Cys2830Ter
ENST00000613296.6:c.8490T>A MANE Select	ENSP00000482968.1:p.Cys2830Ter
NM_015120.4:c.8493T>A , LRG_741t1:c.8493T>A	NP_055935.4:p.Cys2831Ter
ENST00000423048.5:c.3030+291T>A	ENSP00000399833.1:n.3030+291T>A
ENST00000484298.5:c.8364T>A	ENSP00000478155.1:p.Cys2788Ter
ENST00000613296.4:c.8490T>A	ENSP00000482968.1:p.Cys2830Ter
ENST00000614410.4:c.8490T>A	ENSP00000479094.1:p.Cys2830Ter
ENST00000620466.4:n.2293T>A
ENST00000651434.1:c.896-29326T>A
ENST00000682565.1:c.8109T>A	ENSP00000507671.1:p.Cys2703Ter
ENST00000682801.1:c.8109T>A	ENSP00000507862.1:p.Cys2703Ter
ENST00000682859.1:c.8109T>A	ENSP00000508222.1:p.Cys2703Ter
ENST00000683791.1:c.1501T>A
ENST00000684460.1:c.5561T>A
ENST00000684548.1:c.8109T>A	ENSP00000507421.1:p.Cys2703Ter
ENST00000684590.1:c.2556T>A	ENSP00000507376.1:p.Cys852Ter
ENST00000684656.1:c.5561T>A