Canonical Allele Identifier: CA16102183

Gene: ALMS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73591809G>A , CM000664.2:g.73591809G>A	GRCh38
NC_000002.11:g.73818936G>A , CM000664.1:g.73818936G>A	GRCh37
NC_000002.10:g.73672444G>A	NCBI36
NG_011690.1:g.211057G>A , LRG_741:g.211057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11167-7592G>A	ENSP00000507671.1:n.11167-7592G>A
ENST00000682801.1:c.11167-10376G>A	ENSP00000507862.1:n.11167-10376G>A
ENST00000682859.1:c.11167-7592G>A	ENSP00000508222.1:n.11167-7592G>A
ENST00000683791.1:c.4253-7592G>A
ENST00000684460.1:c.8448-7592G>A
ENST00000684548.1:c.11167-7592G>A	ENSP00000507421.1:n.11167-7592G>A
ENST00000684590.1:c.5614-7592G>A	ENSP00000507376.1:n.5614-7592G>A
ENST00000684656.1:c.8493-1940G>A
ENST00000613296.6:c.11548-7592G>A MANE Select	ENSP00000482968.1:n.11548-7592G>A
ENST00000651057.1:c.1702-7592G>A	ENSP00000498504.1:n.1702-7592G>A
ENST00000651434.1:c.2904-7592G>A
ENST00000651750.1:c.936-7592G>A
ENST00000652487.1:c.2645-7435G>A
ENST00000484298.5:c.11422-7592G>A	ENSP00000478155.1:n.11422-7592G>A
ENST00000613296.4:c.11548-7592G>A	ENSP00000482968.1:n.11548-7592G>A
ENST00000620466.4:n.5351-7592G>A
NM_015120.4:c.11551-7592G>A , LRG_741t1:c.11551-7592G>A	NP_055935.4:n.11551-7592G>A
NM_001378454.1:c.11548-7592G>A MANE Select	NP_001365383.1:n.11548-7592G>A