Canonical Allele Identifier: CA1261033648

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601209G= , CM000664.2:g.73601209G=	GRCh38
NC_000002.11:g.73828336G= , CM000664.1:g.73828336G=	GRCh37
NC_000002.10:g.73681844G=	NCBI36
NG_011690.1:g.220457G= , LRG_741:g.220457G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11506G=	ENSP00000507671.1:p.Val3836=
ENST00000682801.1:c.11167-976G=	ENSP00000507862.1:n.11167-976G=
ENST00000682859.1:c.11506G=	ENSP00000508222.1:p.Val3836=
ENST00000683791.1:c.4592G=
ENST00000684460.1:c.8787G=
ENST00000684548.1:c.11506G=	ENSP00000507421.1:p.Val3836=
ENST00000684590.1:c.5953G=	ENSP00000507376.1:p.Val1985=
ENST00000684656.1:c.8971G=
ENST00000613296.6:c.11887G= MANE Select	ENSP00000482968.1:p.Val3963=
ENST00000651057.1:c.2041G=	ENSP00000498504.1:p.Val681=
ENST00000651434.1:c.3243G=
ENST00000651750.1:c.1260+328G=
ENST00000652487.1:c.3058G=
ENST00000464408.3:n.62G=
ENST00000484298.5:c.11761G=	ENSP00000478155.1:p.Val3921=
ENST00000613296.4:c.11887G=	ENSP00000482968.1:p.Val3963=
ENST00000620466.4:n.5690G=
NM_015120.4:c.11890G= , LRG_741t1:c.11890G=	NP_055935.4:p.Val3964=
NM_001378454.1:c.11887G= MANE Select	NP_001365383.1:p.Val3963=