Canonical Allele Identifier: CA347274529

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608485C>T , CM000664.2:g.73608485C>T	GRCh38
NC_000002.11:g.73835612C>T , CM000664.1:g.73835612C>T	GRCh37
NC_000002.10:g.73689120C>T	NCBI36
NG_011690.1:g.227733C>T , LRG_741:g.227733C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12373C>T MANE Select	NP_001365383.1:p.Gln4125Ter
ENST00000613296.6:c.12373C>T MANE Select	ENSP00000482968.1:p.Gln4125Ter
NM_015120.4:c.12376C>T , LRG_741t1:c.12376C>T	NP_055935.4:p.Gln4126Ter
ENST00000464408.3:n.609C>T
ENST00000484298.5:c.12247C>T	ENSP00000478155.1:p.Gln4083Ter
ENST00000490821.1:n.17C>T
ENST00000613296.4:c.12373C>T	ENSP00000482968.1:p.Gln4125Ter
ENST00000651057.1:c.2527C>T	ENSP00000498504.1:p.Gln843Ter
ENST00000651434.1:c.3729C>T
ENST00000651750.1:c.1519C>T
ENST00000652487.1:c.3544C>T
ENST00000682565.1:c.12070C>T	ENSP00000507671.1:n.12070C>T
ENST00000682801.1:c.11425C>T	ENSP00000507862.1:p.Gln3809Ter
ENST00000682859.1:c.11992C>T	ENSP00000508222.1:p.Gln3998Ter
ENST00000683108.1:n.115C>T
ENST00000683147.1:n.3452C>T
ENST00000683791.1:c.5078C>T
ENST00000684460.1:c.9273C>T
ENST00000684548.1:c.11992C>T	ENSP00000507421.1:p.Gln3998Ter
ENST00000684590.1:c.6439C>T	ENSP00000507376.1:p.Gln2147Ter
ENST00000684656.1:c.9457C>T