Canonical Allele Identifier: CA347283939

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799590C>A (hg19) ; chr2:g.73572463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572463C>A , CM000664.2:g.73572463C>A	GRCh38
NC_000002.11:g.73799590C>A , CM000664.1:g.73799590C>A	GRCh37
NC_000002.10:g.73653098C>A	NCBI36
NG_011690.1:g.191711C>A , LRG_741:g.191711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10205C>A	ENSP00000507671.1:p.Pro3402His
ENST00000682801.1:c.10205C>A	ENSP00000507862.1:p.Pro3402His
ENST00000682859.1:c.10205C>A	ENSP00000508222.1:p.Pro3402His
ENST00000683791.1:c.3291C>A
ENST00000684460.1:c.7486C>A
ENST00000684548.1:c.10205C>A	ENSP00000507421.1:p.Pro3402His
ENST00000684590.1:c.4652C>A	ENSP00000507376.1:p.Pro1551His
ENST00000684656.1:c.7531C>A
ENST00000613296.6:c.10586C>A MANE Select	ENSP00000482968.1:p.Pro3529His
ENST00000651057.1:c.740C>A	ENSP00000498504.1:p.Pro247His
ENST00000651434.1:c.1942C>A
ENST00000652487.1:c.1683C>A
ENST00000423048.5:c.4077C>A	ENSP00000399833.1:n.4077C>A
ENST00000484298.5:c.10460C>A	ENSP00000478155.1:p.Pro3487His
ENST00000613296.4:c.10586C>A	ENSP00000482968.1:p.Pro3529His
ENST00000614410.4:c.10586C>A	ENSP00000479094.1:p.Pro3529His
ENST00000620466.4:n.4389C>A
NM_015120.4:c.10589C>A , LRG_741t1:c.10589C>A	NP_055935.4:p.Pro3530His
NM_001378454.1:c.10586C>A MANE Select	NP_001365383.1:p.Pro3529His