Canonical Allele Identifier: CA1261034103

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601414C= , CM000664.2:g.73601414C=	GRCh38
NC_000002.11:g.73828541C= , CM000664.1:g.73828541C=	GRCh37
NC_000002.10:g.73682049C=	NCBI36
NG_011690.1:g.220662C= , LRG_741:g.220662C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11711C=	ENSP00000507671.1:p.Pro3904=
ENST00000682801.1:c.11167-771C=	ENSP00000507862.1:n.11167-771C=
ENST00000682859.1:c.11711C=	ENSP00000508222.1:p.Pro3904=
ENST00000683791.1:c.4797C=
ENST00000684460.1:c.8992C=
ENST00000684548.1:c.11711C=	ENSP00000507421.1:p.Pro3904=
ENST00000684590.1:c.6158C=	ENSP00000507376.1:p.Pro2053=
ENST00000684656.1:c.9176C=
ENST00000613296.6:c.12092C= MANE Select	ENSP00000482968.1:p.Pro4031=
ENST00000651057.1:c.2246C=	ENSP00000498504.1:p.Pro749=
ENST00000651434.1:c.3448C=
ENST00000651750.1:c.1260+533C=
ENST00000652487.1:c.3263C=
ENST00000464408.3:n.267C=
ENST00000484298.5:c.11966C=	ENSP00000478155.1:p.Pro3989=
ENST00000613296.4:c.12092C=	ENSP00000482968.1:p.Pro4031=
ENST00000620466.4:n.5895C=
NM_015120.4:c.12095C= , LRG_741t1:c.12095C=	NP_055935.4:p.Pro4032=
NM_001378454.1:c.12092C= MANE Select	NP_001365383.1:p.Pro4031=