Canonical Allele Identifier: CA347263633

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534865A>T , CM000664.2:g.73534865A>T	GRCh38
NC_000002.11:g.73761992A>T , CM000664.1:g.73761992A>T	GRCh37
NC_000002.10:g.73615500A>T	NCBI36
NG_011690.1:g.154113A>T , LRG_741:g.154113A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9823A>T MANE Select	NP_001365383.1:p.Lys3275Ter
ENST00000613296.6:c.9823A>T MANE Select	ENSP00000482968.1:p.Lys3275Ter
NM_015120.4:c.9826A>T , LRG_741t1:c.9826A>T	NP_055935.4:p.Lys3276Ter
ENST00000423048.5:c.3314A>T	ENSP00000399833.1:n.3314A>T
ENST00000476650.2:n.114A>T
ENST00000484298.5:c.9697A>T	ENSP00000478155.1:p.Lys3233Ter
ENST00000613296.4:c.9823A>T	ENSP00000482968.1:p.Lys3275Ter
ENST00000614410.4:c.9823A>T	ENSP00000479094.1:p.Lys3275Ter
ENST00000620466.4:n.3626A>T
ENST00000651057.1:c.61+14849A>T	ENSP00000498504.1:n.61+14849A>T
ENST00000651434.1:c.1179A>T
ENST00000652487.1:c.920A>T
ENST00000682565.1:c.9442A>T	ENSP00000507671.1:p.Lys3148Ter
ENST00000682801.1:c.9442A>T	ENSP00000507862.1:p.Lys3148Ter
ENST00000682859.1:c.9442A>T	ENSP00000508222.1:p.Lys3148Ter
ENST00000683791.1:c.2834A>T
ENST00000684460.1:c.6894A>T
ENST00000684548.1:c.9442A>T	ENSP00000507421.1:p.Lys3148Ter
ENST00000684590.1:c.3889A>T	ENSP00000507376.1:p.Lys1297Ter
ENST00000684656.1:c.6852+14849A>T