Canonical Allele Identifier: CA1715262

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73599479A>G , CM000664.2:g.73599479A>G	GRCh38
NC_000002.11:g.73826606A>G , CM000664.1:g.73826606A>G	GRCh37
NC_000002.10:g.73680114A>G	NCBI36
NG_011690.1:g.218727A>G , LRG_741:g.218727A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11626A>G MANE Select	NP_001365383.1:p.Asn3876Asp
ENST00000613296.6:c.11626A>G MANE Select	ENSP00000482968.1:p.Asn3876Asp
NM_015120.4:c.11629A>G , LRG_741t1:c.11629A>G	NP_055935.4:p.Asn3877Asp
ENST00000484298.5:c.11500A>G	ENSP00000478155.1:p.Asn3834Asp
ENST00000613296.4:c.11626A>G	ENSP00000482968.1:p.Asn3876Asp
ENST00000620466.4:n.5429A>G
ENST00000651057.1:c.1780A>G	ENSP00000498504.1:p.Asn594Asp
ENST00000651434.1:c.2982A>G
ENST00000651750.1:c.1014A>G
ENST00000652487.1:c.2797A>G
ENST00000682565.1:c.11245A>G	ENSP00000507671.1:p.Asn3749Asp
ENST00000682801.1:c.11167-2706A>G	ENSP00000507862.1:n.11167-2706A>G
ENST00000682859.1:c.11245A>G	ENSP00000508222.1:p.Asn3749Asp
ENST00000683791.1:c.4331A>G
ENST00000684460.1:c.8526A>G
ENST00000684548.1:c.11245A>G	ENSP00000507421.1:p.Asn3749Asp
ENST00000684590.1:c.5692A>G	ENSP00000507376.1:p.Asn1898Asp
ENST00000684656.1:c.8710A>G