Canonical Allele Identifier: CA1713247

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448493G>A , CM000664.2:g.73448493G>A	GRCh38
NC_000002.11:g.73675620G>A , CM000664.1:g.73675620G>A	GRCh37
NC_000002.10:g.73529128G>A	NCBI36
NG_011690.1:g.67741G>A , LRG_741:g.67741G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1966G>A MANE Select	NP_001365383.1:p.Glu656Lys
ENST00000613296.6:c.1966G>A MANE Select	ENSP00000482968.1:p.Glu656Lys
NM_015120.4:c.1969G>A , LRG_741t1:c.1969G>A	NP_055935.4:p.Glu657Lys
ENST00000484298.5:c.1840G>A	ENSP00000478155.1:p.Glu614Lys
ENST00000613296.4:c.1966G>A	ENSP00000482968.1:p.Glu656Lys
ENST00000614410.4:c.1966G>A	ENSP00000479094.1:p.Glu656Lys
ENST00000682565.1:c.1585G>A	ENSP00000507671.1:p.Glu529Lys
ENST00000682801.1:c.1585G>A	ENSP00000507862.1:p.Glu529Lys
ENST00000682859.1:c.1585G>A	ENSP00000508222.1:p.Glu529Lys
ENST00000683791.1:c.685+16202G>A
ENST00000684548.1:c.1585G>A	ENSP00000507421.1:p.Glu529Lys