Canonical Allele Identifier: CA427024687

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1778504
• ClinVar RCV Id: RCV002398843
• MyVariant Identifiers: chr2:g.73799561A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572434A>G , CM000664.2:g.73572434A>G	GRCh38
NC_000002.11:g.73799561A>G , CM000664.1:g.73799561A>G	GRCh37
NC_000002.10:g.73653069A>G	NCBI36
NG_011690.1:g.191682A>G , LRG_741:g.191682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10176A>G	ENSP00000507671.1:p.Pro3392=
ENST00000682801.1:c.10176A>G	ENSP00000507862.1:p.Pro3392=
ENST00000682859.1:c.10176A>G	ENSP00000508222.1:p.Pro3392=
ENST00000683791.1:c.3262A>G
ENST00000684460.1:c.7457A>G
ENST00000684548.1:c.10176A>G	ENSP00000507421.1:p.Pro3392=
ENST00000684590.1:c.4623A>G	ENSP00000507376.1:p.Pro1541=
ENST00000684656.1:c.7502A>G
ENST00000613296.6:c.10557A>G MANE Select	ENSP00000482968.1:p.Pro3519=
ENST00000651057.1:c.711A>G	ENSP00000498504.1:p.Pro237=
ENST00000651434.1:c.1913A>G
ENST00000652487.1:c.1654A>G
ENST00000423048.5:c.4048A>G	ENSP00000399833.1:n.4048A>G
ENST00000484298.5:c.10431A>G	ENSP00000478155.1:p.Pro3477=
ENST00000613296.4:c.10557A>G	ENSP00000482968.1:p.Pro3519=
ENST00000614410.4:c.10557A>G	ENSP00000479094.1:p.Pro3519=
ENST00000620466.4:n.4360A>G
NM_015120.4:c.10560A>G , LRG_741t1:c.10560A>G	NP_055935.4:p.Pro3520=
NM_001378454.1:c.10557A>G MANE Select	NP_001365383.1:p.Pro3519=