Canonical Allele Identifier: CA347265731

Gene: ALMS1

Linked Data

• dbSNP Id: rs1383132651
• gnomAD v2: 2-73828379-T-A
• gnomAD v4: 2-73601252-T-A
• MyVariant Identifiers: chr2:g.73828379T>A (hg19) ; chr2:g.73601252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601252T>A , CM000664.2:g.73601252T>A	GRCh38
NC_000002.11:g.73828379T>A , CM000664.1:g.73828379T>A	GRCh37
NC_000002.10:g.73681887T>A	NCBI36
NG_011690.1:g.220500T>A , LRG_741:g.220500T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11549T>A	ENSP00000507671.1:p.Val3850Glu
ENST00000682801.1:c.11167-933T>A	ENSP00000507862.1:n.11167-933T>A
ENST00000682859.1:c.11549T>A	ENSP00000508222.1:p.Val3850Glu
ENST00000683791.1:c.4635T>A
ENST00000684460.1:c.8830T>A
ENST00000684548.1:c.11549T>A	ENSP00000507421.1:p.Val3850Glu
ENST00000684590.1:c.5996T>A	ENSP00000507376.1:p.Val1999Glu
ENST00000684656.1:c.9014T>A
ENST00000613296.6:c.11930T>A MANE Select	ENSP00000482968.1:p.Val3977Glu
ENST00000651057.1:c.2084T>A	ENSP00000498504.1:p.Val695Glu
ENST00000651434.1:c.3286T>A
ENST00000651750.1:c.1260+371T>A
ENST00000652487.1:c.3101T>A
ENST00000464408.3:n.105T>A
ENST00000484298.5:c.11804T>A	ENSP00000478155.1:p.Val3935Glu
ENST00000613296.4:c.11930T>A	ENSP00000482968.1:p.Val3977Glu
ENST00000620466.4:n.5733T>A
NM_015120.4:c.11933T>A , LRG_741t1:c.11933T>A	NP_055935.4:p.Val3978Glu
NM_001378454.1:c.11930T>A MANE Select	NP_001365383.1:p.Val3977Glu