Canonical Allele Identifier: CA427024579

Gene: ALMS1

Linked Data

• dbSNP Id: rs1245526941
• gnomAD v2: 2-73799822-G-A
• gnomAD v3: 2-73572695-G-A
• gnomAD v4: 2-73572695-G-A
• MyVariant Identifiers: chr2:g.73799822G>A (hg19) ; chr2:g.73572695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572695G>A , CM000664.2:g.73572695G>A	GRCh38
NC_000002.11:g.73799822G>A , CM000664.1:g.73799822G>A	GRCh37
NC_000002.10:g.73653330G>A	NCBI36
NG_011690.1:g.191943G>A , LRG_741:g.191943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10437G>A	ENSP00000507671.1:p.Arg3479=
ENST00000682801.1:c.10437G>A	ENSP00000507862.1:p.Arg3479=
ENST00000682859.1:c.10437G>A	ENSP00000508222.1:p.Arg3479=
ENST00000683791.1:c.3523G>A
ENST00000684460.1:c.7718G>A
ENST00000684548.1:c.10437G>A	ENSP00000507421.1:p.Arg3479=
ENST00000684590.1:c.4884G>A	ENSP00000507376.1:p.Arg1628=
ENST00000684656.1:c.7763G>A
ENST00000613296.6:c.10818G>A MANE Select	ENSP00000482968.1:p.Arg3606=
ENST00000651057.1:c.972G>A	ENSP00000498504.1:p.Arg324=
ENST00000651434.1:c.2174G>A
ENST00000651750.1:c.206G>A
ENST00000652487.1:c.1915G>A
ENST00000423048.5:c.4309G>A	ENSP00000399833.1:n.4309G>A
ENST00000484298.5:c.10692G>A	ENSP00000478155.1:p.Arg3564=
ENST00000613296.4:c.10818G>A	ENSP00000482968.1:p.Arg3606=
ENST00000614410.4:c.10818G>A	ENSP00000479094.1:p.Arg3606=
ENST00000620466.4:n.4621G>A
NM_015120.4:c.10821G>A , LRG_741t1:c.10821G>A	NP_055935.4:p.Arg3607=
NM_001378454.1:c.10818G>A MANE Select	NP_001365383.1:p.Arg3606=