Canonical Allele Identifier: CA347266805

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828505G>A (hg19) ; chr2:g.73601378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601378G>A , CM000664.2:g.73601378G>A	GRCh38
NC_000002.11:g.73828505G>A , CM000664.1:g.73828505G>A	GRCh37
NC_000002.10:g.73682013G>A	NCBI36
NG_011690.1:g.220626G>A , LRG_741:g.220626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11675G>A	ENSP00000507671.1:p.Gly3892Asp
ENST00000682801.1:c.11167-807G>A	ENSP00000507862.1:n.11167-807G>A
ENST00000682859.1:c.11675G>A	ENSP00000508222.1:p.Gly3892Asp
ENST00000683791.1:c.4761G>A
ENST00000684460.1:c.8956G>A
ENST00000684548.1:c.11675G>A	ENSP00000507421.1:p.Gly3892Asp
ENST00000684590.1:c.6122G>A	ENSP00000507376.1:p.Gly2041Asp
ENST00000684656.1:c.9140G>A
ENST00000613296.6:c.12056G>A MANE Select	ENSP00000482968.1:p.Gly4019Asp
ENST00000651057.1:c.2210G>A	ENSP00000498504.1:p.Gly737Asp
ENST00000651434.1:c.3412G>A
ENST00000651750.1:c.1260+497G>A
ENST00000652487.1:c.3227G>A
ENST00000464408.3:n.231G>A
ENST00000484298.5:c.11930G>A	ENSP00000478155.1:p.Gly3977Asp
ENST00000613296.4:c.12056G>A	ENSP00000482968.1:p.Gly4019Asp
ENST00000620466.4:n.5859G>A
NM_015120.4:c.12059G>A , LRG_741t1:c.12059G>A	NP_055935.4:p.Gly4020Asp
NM_001378454.1:c.12056G>A MANE Select	NP_001365383.1:p.Gly4019Asp