Canonical Allele Identifier: CA426783503

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601226-G-A
• MyVariant Identifiers: chr2:g.73828353G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601226G>A , CM000664.2:g.73601226G>A	GRCh38
NC_000002.11:g.73828353G>A , CM000664.1:g.73828353G>A	GRCh37
NC_000002.10:g.73681861G>A	NCBI36
NG_011690.1:g.220474G>A , LRG_741:g.220474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11523G>A	ENSP00000507671.1:p.Val3841=
ENST00000682801.1:c.11167-959G>A	ENSP00000507862.1:n.11167-959G>A
ENST00000682859.1:c.11523G>A	ENSP00000508222.1:p.Val3841=
ENST00000683791.1:c.4609G>A
ENST00000684460.1:c.8804G>A
ENST00000684548.1:c.11523G>A	ENSP00000507421.1:p.Val3841=
ENST00000684590.1:c.5970G>A	ENSP00000507376.1:p.Val1990=
ENST00000684656.1:c.8988G>A
ENST00000613296.6:c.11904G>A MANE Select	ENSP00000482968.1:p.Val3968=
ENST00000651057.1:c.2058G>A	ENSP00000498504.1:p.Val686=
ENST00000651434.1:c.3260G>A
ENST00000651750.1:c.1260+345G>A
ENST00000652487.1:c.3075G>A
ENST00000464408.3:n.79G>A
ENST00000484298.5:c.11778G>A	ENSP00000478155.1:p.Val3926=
ENST00000613296.4:c.11904G>A	ENSP00000482968.1:p.Val3968=
ENST00000620466.4:n.5707G>A
NM_015120.4:c.11907G>A , LRG_741t1:c.11907G>A	NP_055935.4:p.Val3969=
NM_001378454.1:c.11904G>A MANE Select	NP_001365383.1:p.Val3968=