Canonical Allele Identifier: CA427024190

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799705T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572578T>G , CM000664.2:g.73572578T>G	GRCh38
NC_000002.11:g.73799705T>G , CM000664.1:g.73799705T>G	GRCh37
NC_000002.10:g.73653213T>G	NCBI36
NG_011690.1:g.191826T>G , LRG_741:g.191826T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10320T>G	ENSP00000507671.1:p.Val3440=
ENST00000682801.1:c.10320T>G	ENSP00000507862.1:p.Val3440=
ENST00000682859.1:c.10320T>G	ENSP00000508222.1:p.Val3440=
ENST00000683791.1:c.3406T>G
ENST00000684460.1:c.7601T>G
ENST00000684548.1:c.10320T>G	ENSP00000507421.1:p.Val3440=
ENST00000684590.1:c.4767T>G	ENSP00000507376.1:p.Val1589=
ENST00000684656.1:c.7646T>G
ENST00000613296.6:c.10701T>G MANE Select	ENSP00000482968.1:p.Val3567=
ENST00000651057.1:c.855T>G	ENSP00000498504.1:p.Val285=
ENST00000651434.1:c.2057T>G
ENST00000651750.1:c.89T>G
ENST00000652487.1:c.1798T>G
ENST00000423048.5:c.4192T>G	ENSP00000399833.1:n.4192T>G
ENST00000484298.5:c.10575T>G	ENSP00000478155.1:p.Val3525=
ENST00000613296.4:c.10701T>G	ENSP00000482968.1:p.Val3567=
ENST00000614410.4:c.10701T>G	ENSP00000479094.1:p.Val3567=
ENST00000620466.4:n.4504T>G
NM_015120.4:c.10704T>G , LRG_741t1:c.10704T>G	NP_055935.4:p.Val3568=
NM_001378454.1:c.10701T>G MANE Select	NP_001365383.1:p.Val3567=