Canonical Allele Identifier: CA427024086

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572794-A-G
• MyVariant Identifiers: chr2:g.73799921A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572794A>G , CM000664.2:g.73572794A>G	GRCh38
NC_000002.11:g.73799921A>G , CM000664.1:g.73799921A>G	GRCh37
NC_000002.10:g.73653429A>G	NCBI36
NG_011690.1:g.192042A>G , LRG_741:g.192042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10536A>G	ENSP00000507671.1:p.Pro3512=
ENST00000682801.1:c.10536A>G	ENSP00000507862.1:p.Pro3512=
ENST00000682859.1:c.10536A>G	ENSP00000508222.1:p.Pro3512=
ENST00000683791.1:c.3622A>G
ENST00000684460.1:c.7817A>G
ENST00000684548.1:c.10536A>G	ENSP00000507421.1:p.Pro3512=
ENST00000684590.1:c.4983A>G	ENSP00000507376.1:p.Pro1661=
ENST00000684656.1:c.7862A>G
ENST00000613296.6:c.10917A>G MANE Select	ENSP00000482968.1:p.Pro3639=
ENST00000651057.1:c.1071A>G	ENSP00000498504.1:p.Pro357=
ENST00000651434.1:c.2273A>G
ENST00000651750.1:c.305A>G
ENST00000652487.1:c.2014A>G
ENST00000423048.5:c.4408A>G	ENSP00000399833.1:n.4408A>G
ENST00000484298.5:c.10791A>G	ENSP00000478155.1:p.Pro3597=
ENST00000613296.4:c.10917A>G	ENSP00000482968.1:p.Pro3639=
ENST00000614410.4:c.10917A>G	ENSP00000479094.1:p.Pro3639=
ENST00000620466.4:n.4720A>G
NM_015120.4:c.10920A>G , LRG_741t1:c.10920A>G	NP_055935.4:p.Pro3640=
NM_001378454.1:c.10917A>G MANE Select	NP_001365383.1:p.Pro3639=