Canonical Allele Identifier: CA1261034116

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601419G= , CM000664.2:g.73601419G=	GRCh38
NC_000002.11:g.73828546G= , CM000664.1:g.73828546G=	GRCh37
NC_000002.10:g.73682054G=	NCBI36
NG_011690.1:g.220667G= , LRG_741:g.220667G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11716G=	ENSP00000507671.1:p.Val3906=
ENST00000682801.1:c.11167-766G=	ENSP00000507862.1:n.11167-766G=
ENST00000682859.1:c.11716G=	ENSP00000508222.1:p.Val3906=
ENST00000683791.1:c.4802G=
ENST00000684460.1:c.8997G=
ENST00000684548.1:c.11716G=	ENSP00000507421.1:p.Val3906=
ENST00000684590.1:c.6163G=	ENSP00000507376.1:p.Val2055=
ENST00000684656.1:c.9181G=
ENST00000613296.6:c.12097G= MANE Select	ENSP00000482968.1:p.Val4033=
ENST00000651057.1:c.2251G=	ENSP00000498504.1:p.Val751=
ENST00000651434.1:c.3453G=
ENST00000651750.1:c.1260+538G=
ENST00000652487.1:c.3268G=
ENST00000464408.3:n.272G=
ENST00000484298.5:c.11971G=	ENSP00000478155.1:p.Val3991=
ENST00000613296.4:c.12097G=	ENSP00000482968.1:p.Val4033=
ENST00000620466.4:n.5900G=
NM_015120.4:c.12100G= , LRG_741t1:c.12100G=	NP_055935.4:p.Val4034=
NM_001378454.1:c.12097G= MANE Select	NP_001365383.1:p.Val4033=