Canonical Allele Identifier: CA347283982

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799596C>A (hg19) ; chr2:g.73572469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572469C>A , CM000664.2:g.73572469C>A	GRCh38
NC_000002.11:g.73799596C>A , CM000664.1:g.73799596C>A	GRCh37
NC_000002.10:g.73653104C>A	NCBI36
NG_011690.1:g.191717C>A , LRG_741:g.191717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10211C>A	ENSP00000507671.1:p.Pro3404His
ENST00000682801.1:c.10211C>A	ENSP00000507862.1:p.Pro3404His
ENST00000682859.1:c.10211C>A	ENSP00000508222.1:p.Pro3404His
ENST00000683791.1:c.3297C>A
ENST00000684460.1:c.7492C>A
ENST00000684548.1:c.10211C>A	ENSP00000507421.1:p.Pro3404His
ENST00000684590.1:c.4658C>A	ENSP00000507376.1:p.Pro1553His
ENST00000684656.1:c.7537C>A
ENST00000613296.6:c.10592C>A MANE Select	ENSP00000482968.1:p.Pro3531His
ENST00000651057.1:c.746C>A	ENSP00000498504.1:p.Pro249His
ENST00000651434.1:c.1948C>A
ENST00000652487.1:c.1689C>A
ENST00000423048.5:c.4083C>A	ENSP00000399833.1:n.4083C>A
ENST00000484298.5:c.10466C>A	ENSP00000478155.1:p.Pro3489His
ENST00000613296.4:c.10592C>A	ENSP00000482968.1:p.Pro3531His
ENST00000614410.4:c.10592C>A	ENSP00000479094.1:p.Pro3531His
ENST00000620466.4:n.4395C>A
NM_015120.4:c.10595C>A , LRG_741t1:c.10595C>A	NP_055935.4:p.Pro3532His
NM_001378454.1:c.10592C>A MANE Select	NP_001365383.1:p.Pro3531His