Canonical Allele Identifier: CA347283469

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799541G>A (hg19) ; chr2:g.73572414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572414G>A , CM000664.2:g.73572414G>A	GRCh38
NC_000002.11:g.73799541G>A , CM000664.1:g.73799541G>A	GRCh37
NC_000002.10:g.73653049G>A	NCBI36
NG_011690.1:g.191662G>A , LRG_741:g.191662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10156G>A	ENSP00000507671.1:p.Asp3386Asn
ENST00000682801.1:c.10156G>A	ENSP00000507862.1:p.Asp3386Asn
ENST00000682859.1:c.10156G>A	ENSP00000508222.1:p.Asp3386Asn
ENST00000683791.1:c.3242G>A
ENST00000684460.1:c.7437G>A
ENST00000684548.1:c.10156G>A	ENSP00000507421.1:p.Asp3386Asn
ENST00000684590.1:c.4603G>A	ENSP00000507376.1:p.Asp1535Asn
ENST00000684656.1:c.7482G>A
ENST00000613296.6:c.10537G>A MANE Select	ENSP00000482968.1:p.Asp3513Asn
ENST00000651057.1:c.691G>A	ENSP00000498504.1:p.Asp231Asn
ENST00000651434.1:c.1893G>A
ENST00000652487.1:c.1634G>A
ENST00000423048.5:c.4028G>A	ENSP00000399833.1:n.4028G>A
ENST00000484298.5:c.10411G>A	ENSP00000478155.1:p.Asp3471Asn
ENST00000613296.4:c.10537G>A	ENSP00000482968.1:p.Asp3513Asn
ENST00000614410.4:c.10537G>A	ENSP00000479094.1:p.Asp3513Asn
ENST00000620466.4:n.4340G>A
NM_015120.4:c.10540G>A , LRG_741t1:c.10540G>A	NP_055935.4:p.Asp3514Asn
NM_001378454.1:c.10537G>A MANE Select	NP_001365383.1:p.Asp3513Asn