Canonical Allele Identifier: CA534125793

Gene: ALMS1

Linked Data

• dbSNP Id: rs887966455
• gnomAD v2: 2-73828271-G-A
• gnomAD v3: 2-73601144-G-A
• gnomAD v4: 2-73601144-G-A
• MyVariant Identifiers: chr2:g.73828271G>A (hg19) ; chr2:g.73601144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601144G>A , CM000664.2:g.73601144G>A	GRCh38
NC_000002.11:g.73828271G>A , CM000664.1:g.73828271G>A	GRCh37
NC_000002.10:g.73681779G>A	NCBI36
NG_011690.1:g.220392G>A , LRG_741:g.220392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-51G>A	ENSP00000507671.1:n.11492-51G>A
ENST00000682801.1:c.11167-1041G>A	ENSP00000507862.1:n.11167-1041G>A
ENST00000682859.1:c.11492-51G>A	ENSP00000508222.1:n.11492-51G>A
ENST00000683791.1:c.4578-51G>A
ENST00000684460.1:c.8773-51G>A
ENST00000684548.1:c.11492-51G>A	ENSP00000507421.1:n.11492-51G>A
ENST00000684590.1:c.5939-51G>A	ENSP00000507376.1:n.5939-51G>A
ENST00000684656.1:c.8957-51G>A
ENST00000613296.6:c.11873-51G>A MANE Select	ENSP00000482968.1:n.11873-51G>A
ENST00000651057.1:c.2027-51G>A	ENSP00000498504.1:n.2027-51G>A
ENST00000651434.1:c.3229-51G>A
ENST00000651750.1:c.1260+263G>A
ENST00000652487.1:c.3044-51G>A
ENST00000464408.3:n.48-51G>A
ENST00000484298.5:c.11747-51G>A	ENSP00000478155.1:n.11747-51G>A
ENST00000613296.4:c.11873-51G>A	ENSP00000482968.1:n.11873-51G>A
ENST00000620466.4:n.5676-51G>A
NM_015120.4:c.11876-51G>A , LRG_741t1:c.11876-51G>A	NP_055935.4:n.11876-51G>A
NM_001378454.1:c.11873-51G>A MANE Select	NP_001365383.1:n.11873-51G>A