Canonical Allele Identifier: CA1713055

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424804T>C , CM000664.2:g.73424804T>C	GRCh38
NC_000002.11:g.73651932T>C , CM000664.1:g.73651932T>C	GRCh37
NC_000002.10:g.73505440T>C	NCBI36
NG_011690.1:g.44050T>C , LRG_741:g.44050T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1139T>C MANE Select	NP_001365383.1:p.Ile380Thr
ENST00000613296.6:c.1139T>C MANE Select	ENSP00000482968.1:p.Ile380Thr
NM_015120.4:c.1142T>C , LRG_741t1:c.1142T>C	NP_055935.4:p.Ile381Thr
ENST00000484298.5:c.1013T>C	ENSP00000478155.1:p.Ile338Thr
ENST00000613296.4:c.1139T>C	ENSP00000482968.1:p.Ile380Thr
ENST00000614410.4:c.1139T>C	ENSP00000479094.1:p.Ile380Thr
ENST00000682565.1:c.689T>C	ENSP00000507671.1:p.Ile230Thr
ENST00000682675.1:n.1099T>C
ENST00000682801.1:c.689T>C	ENSP00000507862.1:p.Ile230Thr
ENST00000682859.1:c.689T>C	ENSP00000508222.1:p.Ile230Thr
ENST00000682889.1:n.1104T>C
ENST00000683791.1:c.493T>C
ENST00000684548.1:c.689T>C	ENSP00000507421.1:p.Ile230Thr