Canonical Allele Identifier: CA1261033753

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601262T= , CM000664.2:g.73601262T=	GRCh38
NC_000002.11:g.73828389T= , CM000664.1:g.73828389T=	GRCh37
NC_000002.10:g.73681897T=	NCBI36
NG_011690.1:g.220510T= , LRG_741:g.220510T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11559T=	ENSP00000507671.1:p.Thr3853=
ENST00000682801.1:c.11167-923T=	ENSP00000507862.1:n.11167-923T=
ENST00000682859.1:c.11559T=	ENSP00000508222.1:p.Thr3853=
ENST00000683791.1:c.4645T=
ENST00000684460.1:c.8840T=
ENST00000684548.1:c.11559T=	ENSP00000507421.1:p.Thr3853=
ENST00000684590.1:c.6006T=	ENSP00000507376.1:p.Thr2002=
ENST00000684656.1:c.9024T=
ENST00000613296.6:c.11940T= MANE Select	ENSP00000482968.1:p.Thr3980=
ENST00000651057.1:c.2094T=	ENSP00000498504.1:p.Thr698=
ENST00000651434.1:c.3296T=
ENST00000651750.1:c.1260+381T=
ENST00000652487.1:c.3111T=
ENST00000464408.3:n.115T=
ENST00000484298.5:c.11814T=	ENSP00000478155.1:p.Thr3938=
ENST00000613296.4:c.11940T=	ENSP00000482968.1:p.Thr3980=
ENST00000620466.4:n.5743T=
NM_015120.4:c.11943T= , LRG_741t1:c.11943T=	NP_055935.4:p.Thr3981=
NM_001378454.1:c.11940T= MANE Select	NP_001365383.1:p.Thr3980=