Canonical Allele Identifier: CA347265467

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828340C>A (hg19) ; chr2:g.73601213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601213C>A , CM000664.2:g.73601213C>A	GRCh38
NC_000002.11:g.73828340C>A , CM000664.1:g.73828340C>A	GRCh37
NC_000002.10:g.73681848C>A	NCBI36
NG_011690.1:g.220461C>A , LRG_741:g.220461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11510C>A	ENSP00000507671.1:p.Pro3837His
ENST00000682801.1:c.11167-972C>A	ENSP00000507862.1:n.11167-972C>A
ENST00000682859.1:c.11510C>A	ENSP00000508222.1:p.Pro3837His
ENST00000683791.1:c.4596C>A
ENST00000684460.1:c.8791C>A
ENST00000684548.1:c.11510C>A	ENSP00000507421.1:p.Pro3837His
ENST00000684590.1:c.5957C>A	ENSP00000507376.1:p.Pro1986His
ENST00000684656.1:c.8975C>A
ENST00000613296.6:c.11891C>A MANE Select	ENSP00000482968.1:p.Pro3964His
ENST00000651057.1:c.2045C>A	ENSP00000498504.1:p.Pro682His
ENST00000651434.1:c.3247C>A
ENST00000651750.1:c.1260+332C>A
ENST00000652487.1:c.3062C>A
ENST00000464408.3:n.66C>A
ENST00000484298.5:c.11765C>A	ENSP00000478155.1:p.Pro3922His
ENST00000613296.4:c.11891C>A	ENSP00000482968.1:p.Pro3964His
ENST00000620466.4:n.5694C>A
NM_015120.4:c.11894C>A , LRG_741t1:c.11894C>A	NP_055935.4:p.Pro3965His
NM_001378454.1:c.11891C>A MANE Select	NP_001365383.1:p.Pro3964His