Canonical Allele Identifier: CA347286878

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800017T>A (hg19) ; chr2:g.73572890T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572890T>A , CM000664.2:g.73572890T>A	GRCh38
NC_000002.11:g.73800017T>A , CM000664.1:g.73800017T>A	GRCh37
NC_000002.10:g.73653525T>A	NCBI36
NG_011690.1:g.192138T>A , LRG_741:g.192138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10632T>A	ENSP00000507671.1:p.Asn3544Lys
ENST00000682801.1:c.10632T>A	ENSP00000507862.1:p.Asn3544Lys
ENST00000682859.1:c.10632T>A	ENSP00000508222.1:p.Asn3544Lys
ENST00000683791.1:c.3718T>A
ENST00000684460.1:c.7913T>A
ENST00000684548.1:c.10632T>A	ENSP00000507421.1:p.Asn3544Lys
ENST00000684590.1:c.5079T>A	ENSP00000507376.1:p.Asn1693Lys
ENST00000684656.1:c.7958T>A
ENST00000613296.6:c.11013T>A MANE Select	ENSP00000482968.1:p.Asn3671Lys
ENST00000651057.1:c.1167T>A	ENSP00000498504.1:p.Asn389Lys
ENST00000651434.1:c.2369T>A
ENST00000651750.1:c.401T>A
ENST00000652487.1:c.2110T>A
ENST00000423048.5:c.4504T>A	ENSP00000399833.1:n.4504T>A
ENST00000484298.5:c.10887T>A	ENSP00000478155.1:p.Asn3629Lys
ENST00000613296.4:c.11013T>A	ENSP00000482968.1:p.Asn3671Lys
ENST00000614410.4:c.11013T>A	ENSP00000479094.1:p.Asn3671Lys
ENST00000620466.4:n.4816T>A
NM_015120.4:c.11016T>A , LRG_741t1:c.11016T>A	NP_055935.4:p.Asn3672Lys
NM_001378454.1:c.11013T>A MANE Select	NP_001365383.1:p.Asn3671Lys