Canonical Allele Identifier: CA1713376

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449069A>G , CM000664.2:g.73449069A>G	GRCh38
NC_000002.11:g.73676196A>G , CM000664.1:g.73676196A>G	GRCh37
NC_000002.10:g.73529704A>G	NCBI36
NG_011690.1:g.68317A>G , LRG_741:g.68317A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2542A>G MANE Select	NP_001365383.1:p.Thr848Ala
ENST00000613296.6:c.2542A>G MANE Select	ENSP00000482968.1:p.Thr848Ala
NM_015120.4:c.2545A>G , LRG_741t1:c.2545A>G	NP_055935.4:p.Thr849Ala
ENST00000484298.5:c.2416A>G	ENSP00000478155.1:p.Thr806Ala
ENST00000613296.4:c.2542A>G	ENSP00000482968.1:p.Thr848Ala
ENST00000614410.4:c.2542A>G	ENSP00000479094.1:p.Thr848Ala
ENST00000682565.1:c.2161A>G	ENSP00000507671.1:p.Thr721Ala
ENST00000682801.1:c.2161A>G	ENSP00000507862.1:p.Thr721Ala
ENST00000682859.1:c.2161A>G	ENSP00000508222.1:p.Thr721Ala
ENST00000683791.1:c.685+16778A>G
ENST00000684548.1:c.2161A>G	ENSP00000507421.1:p.Thr721Ala