Canonical Allele Identifier: CA426783618

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828524C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601397C>A , CM000664.2:g.73601397C>A	GRCh38
NC_000002.11:g.73828524C>A , CM000664.1:g.73828524C>A	GRCh37
NC_000002.10:g.73682032C>A	NCBI36
NG_011690.1:g.220645C>A , LRG_741:g.220645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11694C>A	ENSP00000507671.1:p.Gly3898=
ENST00000682801.1:c.11167-788C>A	ENSP00000507862.1:n.11167-788C>A
ENST00000682859.1:c.11694C>A	ENSP00000508222.1:p.Gly3898=
ENST00000683791.1:c.4780C>A
ENST00000684460.1:c.8975C>A
ENST00000684548.1:c.11694C>A	ENSP00000507421.1:p.Gly3898=
ENST00000684590.1:c.6141C>A	ENSP00000507376.1:p.Gly2047=
ENST00000684656.1:c.9159C>A
ENST00000613296.6:c.12075C>A MANE Select	ENSP00000482968.1:p.Gly4025=
ENST00000651057.1:c.2229C>A	ENSP00000498504.1:p.Gly743=
ENST00000651434.1:c.3431C>A
ENST00000651750.1:c.1260+516C>A
ENST00000652487.1:c.3246C>A
ENST00000464408.3:n.250C>A
ENST00000484298.5:c.11949C>A	ENSP00000478155.1:p.Gly3983=
ENST00000613296.4:c.12075C>A	ENSP00000482968.1:p.Gly4025=
ENST00000620466.4:n.5878C>A
NM_015120.4:c.12078C>A , LRG_741t1:c.12078C>A	NP_055935.4:p.Gly4026=
NM_001378454.1:c.12075C>A MANE Select	NP_001365383.1:p.Gly4025=