Canonical Allele Identifier: CA426783774

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828548G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601421G>A , CM000664.2:g.73601421G>A	GRCh38
NC_000002.11:g.73828548G>A , CM000664.1:g.73828548G>A	GRCh37
NC_000002.10:g.73682056G>A	NCBI36
NG_011690.1:g.220669G>A , LRG_741:g.220669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11718G>A	ENSP00000507671.1:p.Val3906=
ENST00000682801.1:c.11167-764G>A	ENSP00000507862.1:n.11167-764G>A
ENST00000682859.1:c.11718G>A	ENSP00000508222.1:p.Val3906=
ENST00000683791.1:c.4804G>A
ENST00000684460.1:c.8999G>A
ENST00000684548.1:c.11718G>A	ENSP00000507421.1:p.Val3906=
ENST00000684590.1:c.6165G>A	ENSP00000507376.1:p.Val2055=
ENST00000684656.1:c.9183G>A
ENST00000613296.6:c.12099G>A MANE Select	ENSP00000482968.1:p.Val4033=
ENST00000651057.1:c.2253G>A	ENSP00000498504.1:p.Val751=
ENST00000651434.1:c.3455G>A
ENST00000651750.1:c.1260+540G>A
ENST00000652487.1:c.3270G>A
ENST00000464408.3:n.274G>A
ENST00000484298.5:c.11973G>A	ENSP00000478155.1:p.Val3991=
ENST00000613296.4:c.12099G>A	ENSP00000482968.1:p.Val4033=
ENST00000620466.4:n.5902G>A
NM_015120.4:c.12102G>A , LRG_741t1:c.12102G>A	NP_055935.4:p.Val4034=
NM_001378454.1:c.12099G>A MANE Select	NP_001365383.1:p.Val4033=