Canonical Allele Identifier: CA1714970

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559112A>G , CM000664.2:g.73559112A>G	GRCh38
NC_000002.11:g.73786239A>G , CM000664.1:g.73786239A>G	GRCh37
NC_000002.10:g.73639747A>G	NCBI36
NG_011690.1:g.178360A>G , LRG_741:g.178360A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9973A>G	ENSP00000507671.1:p.Asn3325Asp
ENST00000682801.1:c.9973A>G	ENSP00000507862.1:p.Asn3325Asp
ENST00000682859.1:c.9973A>G	ENSP00000508222.1:p.Asn3325Asp
ENST00000683791.1:c.3089+8675A>G
ENST00000684460.1:c.7254A>G
ENST00000684548.1:c.9973A>G	ENSP00000507421.1:p.Asn3325Asp
ENST00000684590.1:c.4420A>G	ENSP00000507376.1:p.Asn1474Asp
ENST00000684656.1:c.7299A>G
ENST00000613296.6:c.10354A>G MANE Select	ENSP00000482968.1:p.Asn3452Asp
ENST00000651057.1:c.508A>G	ENSP00000498504.1:p.Asn170Asp
ENST00000651434.1:c.1710A>G
ENST00000652487.1:c.1451A>G
ENST00000423048.5:c.3845A>G	ENSP00000399833.1:n.3845A>G
ENST00000484298.5:c.10228A>G	ENSP00000478155.1:p.Asn3410Asp
ENST00000613296.4:c.10354A>G	ENSP00000482968.1:p.Asn3452Asp
ENST00000614410.4:c.10354A>G	ENSP00000479094.1:p.Asn3452Asp
ENST00000620466.4:n.4157A>G
NM_015120.4:c.10357A>G , LRG_741t1:c.10357A>G	NP_055935.4:p.Asn3453Asp
NM_001378454.1:c.10354A>G MANE Select	NP_001365383.1:p.Asn3452Asp