Canonical Allele Identifier: CA1261033873

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601320C= , CM000664.2:g.73601320C=	GRCh38
NC_000002.11:g.73828447C= , CM000664.1:g.73828447C=	GRCh37
NC_000002.10:g.73681955C=	NCBI36
NG_011690.1:g.220568C= , LRG_741:g.220568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11617C=	ENSP00000507671.1:p.Pro3873=
ENST00000682801.1:c.11167-865C=	ENSP00000507862.1:n.11167-865C=
ENST00000682859.1:c.11617C=	ENSP00000508222.1:p.Pro3873=
ENST00000683791.1:c.4703C=
ENST00000684460.1:c.8898C=
ENST00000684548.1:c.11617C=	ENSP00000507421.1:p.Pro3873=
ENST00000684590.1:c.6064C=	ENSP00000507376.1:p.Pro2022=
ENST00000684656.1:c.9082C=
ENST00000613296.6:c.11998C= MANE Select	ENSP00000482968.1:p.Pro4000=
ENST00000651057.1:c.2152C=	ENSP00000498504.1:p.Pro718=
ENST00000651434.1:c.3354C=
ENST00000651750.1:c.1260+439C=
ENST00000652487.1:c.3169C=
ENST00000464408.3:n.173C=
ENST00000484298.5:c.11872C=	ENSP00000478155.1:p.Pro3958=
ENST00000613296.4:c.11998C=	ENSP00000482968.1:p.Pro4000=
ENST00000620466.4:n.5801C=
NM_015120.4:c.12001C= , LRG_741t1:c.12001C=	NP_055935.4:p.Pro4001=
NM_001378454.1:c.11998C= MANE Select	NP_001365383.1:p.Pro4000=