Canonical Allele Identifier: CA1261033851

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601313G= , CM000664.2:g.73601313G=	GRCh38
NC_000002.11:g.73828440G= , CM000664.1:g.73828440G=	GRCh37
NC_000002.10:g.73681948G=	NCBI36
NG_011690.1:g.220561G= , LRG_741:g.220561G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11610G=	ENSP00000507671.1:p.Trp3870=
ENST00000682801.1:c.11167-872G=	ENSP00000507862.1:n.11167-872G=
ENST00000682859.1:c.11610G=	ENSP00000508222.1:p.Trp3870=
ENST00000683791.1:c.4696G=
ENST00000684460.1:c.8891G=
ENST00000684548.1:c.11610G=	ENSP00000507421.1:p.Trp3870=
ENST00000684590.1:c.6057G=	ENSP00000507376.1:p.Trp2019=
ENST00000684656.1:c.9075G=
ENST00000613296.6:c.11991G= MANE Select	ENSP00000482968.1:p.Trp3997=
ENST00000651057.1:c.2145G=	ENSP00000498504.1:p.Trp715=
ENST00000651434.1:c.3347G=
ENST00000651750.1:c.1260+432G=
ENST00000652487.1:c.3162G=
ENST00000464408.3:n.166G=
ENST00000484298.5:c.11865G=	ENSP00000478155.1:p.Trp3955=
ENST00000613296.4:c.11991G=	ENSP00000482968.1:p.Trp3997=
ENST00000620466.4:n.5794G=
NM_015120.4:c.11994G= , LRG_741t1:c.11994G=	NP_055935.4:p.Trp3998=
NM_001378454.1:c.11991G= MANE Select	NP_001365383.1:p.Trp3997=