Canonical Allele Identifier: CA347265464

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828339C>G (hg19) ; chr2:g.73601212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601212C>G , CM000664.2:g.73601212C>G	GRCh38
NC_000002.11:g.73828339C>G , CM000664.1:g.73828339C>G	GRCh37
NC_000002.10:g.73681847C>G	NCBI36
NG_011690.1:g.220460C>G , LRG_741:g.220460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11509C>G	ENSP00000507671.1:p.Pro3837Ala
ENST00000682801.1:c.11167-973C>G	ENSP00000507862.1:n.11167-973C>G
ENST00000682859.1:c.11509C>G	ENSP00000508222.1:p.Pro3837Ala
ENST00000683791.1:c.4595C>G
ENST00000684460.1:c.8790C>G
ENST00000684548.1:c.11509C>G	ENSP00000507421.1:p.Pro3837Ala
ENST00000684590.1:c.5956C>G	ENSP00000507376.1:p.Pro1986Ala
ENST00000684656.1:c.8974C>G
ENST00000613296.6:c.11890C>G MANE Select	ENSP00000482968.1:p.Pro3964Ala
ENST00000651057.1:c.2044C>G	ENSP00000498504.1:p.Pro682Ala
ENST00000651434.1:c.3246C>G
ENST00000651750.1:c.1260+331C>G
ENST00000652487.1:c.3061C>G
ENST00000464408.3:n.65C>G
ENST00000484298.5:c.11764C>G	ENSP00000478155.1:p.Pro3922Ala
ENST00000613296.4:c.11890C>G	ENSP00000482968.1:p.Pro3964Ala
ENST00000620466.4:n.5693C>G
NM_015120.4:c.11893C>G , LRG_741t1:c.11893C>G	NP_055935.4:p.Pro3965Ala
NM_001378454.1:c.11890C>G MANE Select	NP_001365383.1:p.Pro3964Ala