Canonical Allele Identifier: CA427024410

Gene: ALMS1

Linked Data

• dbSNP Id: rs2104106215
• gnomAD v4: 2-73572893-G-A
• MyVariant Identifiers: chr2:g.73800020G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572893G>A , CM000664.2:g.73572893G>A	GRCh38
NC_000002.11:g.73800020G>A , CM000664.1:g.73800020G>A	GRCh37
NC_000002.10:g.73653528G>A	NCBI36
NG_011690.1:g.192141G>A , LRG_741:g.192141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10635G>A	ENSP00000507671.1:p.Lys3545=
ENST00000682801.1:c.10635G>A	ENSP00000507862.1:p.Lys3545=
ENST00000682859.1:c.10635G>A	ENSP00000508222.1:p.Lys3545=
ENST00000683791.1:c.3721G>A
ENST00000684460.1:c.7916G>A
ENST00000684548.1:c.10635G>A	ENSP00000507421.1:p.Lys3545=
ENST00000684590.1:c.5082G>A	ENSP00000507376.1:p.Lys1694=
ENST00000684656.1:c.7961G>A
ENST00000613296.6:c.11016G>A MANE Select	ENSP00000482968.1:p.Lys3672=
ENST00000651057.1:c.1170G>A	ENSP00000498504.1:p.Lys390=
ENST00000651434.1:c.2372G>A
ENST00000651750.1:c.404G>A
ENST00000652487.1:c.2113G>A
ENST00000423048.5:c.4507G>A	ENSP00000399833.1:n.4507G>A
ENST00000484298.5:c.10890G>A	ENSP00000478155.1:p.Lys3630=
ENST00000613296.4:c.11016G>A	ENSP00000482968.1:p.Lys3672=
ENST00000614410.4:c.11016G>A	ENSP00000479094.1:p.Lys3672=
ENST00000620466.4:n.4819G>A
NM_015120.4:c.11019G>A , LRG_741t1:c.11019G>A	NP_055935.4:p.Lys3673=
NM_001378454.1:c.11016G>A MANE Select	NP_001365383.1:p.Lys3672=