Canonical Allele Identifier: CA1261033833

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601308C= , CM000664.2:g.73601308C=	GRCh38
NC_000002.11:g.73828435C= , CM000664.1:g.73828435C=	GRCh37
NC_000002.10:g.73681943C=	NCBI36
NG_011690.1:g.220556C= , LRG_741:g.220556C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11605C=	ENSP00000507671.1:p.Pro3869=
ENST00000682801.1:c.11167-877C=	ENSP00000507862.1:n.11167-877C=
ENST00000682859.1:c.11605C=	ENSP00000508222.1:p.Pro3869=
ENST00000683791.1:c.4691C=
ENST00000684460.1:c.8886C=
ENST00000684548.1:c.11605C=	ENSP00000507421.1:p.Pro3869=
ENST00000684590.1:c.6052C=	ENSP00000507376.1:p.Pro2018=
ENST00000684656.1:c.9070C=
ENST00000613296.6:c.11986C= MANE Select	ENSP00000482968.1:p.Pro3996=
ENST00000651057.1:c.2140C=	ENSP00000498504.1:p.Pro714=
ENST00000651434.1:c.3342C=
ENST00000651750.1:c.1260+427C=
ENST00000652487.1:c.3157C=
ENST00000464408.3:n.161C=
ENST00000484298.5:c.11860C=	ENSP00000478155.1:p.Pro3954=
ENST00000613296.4:c.11986C=	ENSP00000482968.1:p.Pro3996=
ENST00000620466.4:n.5789C=
NM_015120.4:c.11989C= , LRG_741t1:c.11989C=	NP_055935.4:p.Pro3997=
NM_001378454.1:c.11986C= MANE Select	NP_001365383.1:p.Pro3996=