Canonical Allele Identifier: CA426783474

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601199-T-G
• MyVariant Identifiers: chr2:g.73828326T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601199T>G , CM000664.2:g.73601199T>G	GRCh38
NC_000002.11:g.73828326T>G , CM000664.1:g.73828326T>G	GRCh37
NC_000002.10:g.73681834T>G	NCBI36
NG_011690.1:g.220447T>G , LRG_741:g.220447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11496T>G	ENSP00000507671.1:p.Val3832=
ENST00000682801.1:c.11167-986T>G	ENSP00000507862.1:n.11167-986T>G
ENST00000682859.1:c.11496T>G	ENSP00000508222.1:p.Val3832=
ENST00000683791.1:c.4582T>G
ENST00000684460.1:c.8777T>G
ENST00000684548.1:c.11496T>G	ENSP00000507421.1:p.Val3832=
ENST00000684590.1:c.5943T>G	ENSP00000507376.1:p.Val1981=
ENST00000684656.1:c.8961T>G
ENST00000613296.6:c.11877T>G MANE Select	ENSP00000482968.1:p.Val3959=
ENST00000651057.1:c.2031T>G	ENSP00000498504.1:p.Val677=
ENST00000651434.1:c.3233T>G
ENST00000651750.1:c.1260+318T>G
ENST00000652487.1:c.3048T>G
ENST00000464408.3:n.52T>G
ENST00000484298.5:c.11751T>G	ENSP00000478155.1:p.Val3917=
ENST00000613296.4:c.11877T>G	ENSP00000482968.1:p.Val3959=
ENST00000620466.4:n.5680T>G
NM_015120.4:c.11880T>G , LRG_741t1:c.11880T>G	NP_055935.4:p.Val3960=
NM_001378454.1:c.11877T>G MANE Select	NP_001365383.1:p.Val3959=