Canonical Allele Identifier: CA347285076

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799723T>G (hg19) ; chr2:g.73572596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572596T>G , CM000664.2:g.73572596T>G	GRCh38
NC_000002.11:g.73799723T>G , CM000664.1:g.73799723T>G	GRCh37
NC_000002.10:g.73653231T>G	NCBI36
NG_011690.1:g.191844T>G , LRG_741:g.191844T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10338T>G	ENSP00000507671.1:p.His3446Gln
ENST00000682801.1:c.10338T>G	ENSP00000507862.1:p.His3446Gln
ENST00000682859.1:c.10338T>G	ENSP00000508222.1:p.His3446Gln
ENST00000683791.1:c.3424T>G
ENST00000684460.1:c.7619T>G
ENST00000684548.1:c.10338T>G	ENSP00000507421.1:p.His3446Gln
ENST00000684590.1:c.4785T>G	ENSP00000507376.1:p.His1595Gln
ENST00000684656.1:c.7664T>G
ENST00000613296.6:c.10719T>G MANE Select	ENSP00000482968.1:p.His3573Gln
ENST00000651057.1:c.873T>G	ENSP00000498504.1:p.His291Gln
ENST00000651434.1:c.2075T>G
ENST00000651750.1:c.107T>G
ENST00000652487.1:c.1816T>G
ENST00000423048.5:c.4210T>G	ENSP00000399833.1:n.4210T>G
ENST00000484298.5:c.10593T>G	ENSP00000478155.1:p.His3531Gln
ENST00000613296.4:c.10719T>G	ENSP00000482968.1:p.His3573Gln
ENST00000614410.4:c.10719T>G	ENSP00000479094.1:p.His3573Gln
ENST00000620466.4:n.4522T>G
NM_015120.4:c.10722T>G , LRG_741t1:c.10722T>G	NP_055935.4:p.His3574Gln
NM_001378454.1:c.10719T>G MANE Select	NP_001365383.1:p.His3573Gln