Canonical Allele Identifier: CA1261033725

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601255C= , CM000664.2:g.73601255C=	GRCh38
NC_000002.11:g.73828382C= , CM000664.1:g.73828382C=	GRCh37
NC_000002.10:g.73681890C=	NCBI36
NG_011690.1:g.220503C= , LRG_741:g.220503C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11552C=	ENSP00000507671.1:p.Pro3851=
ENST00000682801.1:c.11167-930C=	ENSP00000507862.1:n.11167-930C=
ENST00000682859.1:c.11552C=	ENSP00000508222.1:p.Pro3851=
ENST00000683791.1:c.4638C=
ENST00000684460.1:c.8833C=
ENST00000684548.1:c.11552C=	ENSP00000507421.1:p.Pro3851=
ENST00000684590.1:c.5999C=	ENSP00000507376.1:p.Pro2000=
ENST00000684656.1:c.9017C=
ENST00000613296.6:c.11933C= MANE Select	ENSP00000482968.1:p.Pro3978=
ENST00000651057.1:c.2087C=	ENSP00000498504.1:p.Pro696=
ENST00000651434.1:c.3289C=
ENST00000651750.1:c.1260+374C=
ENST00000652487.1:c.3104C=
ENST00000464408.3:n.108C=
ENST00000484298.5:c.11807C=	ENSP00000478155.1:p.Pro3936=
ENST00000613296.4:c.11933C=	ENSP00000482968.1:p.Pro3978=
ENST00000620466.4:n.5736C=
NM_015120.4:c.11936C= , LRG_741t1:c.11936C=	NP_055935.4:p.Pro3979=
NM_001378454.1:c.11933C= MANE Select	NP_001365383.1:p.Pro3978=