Canonical Allele Identifier: CA347282980

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799461A>T (hg19) ; chr2:g.73572334A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572334A>T , CM000664.2:g.73572334A>T	GRCh38
NC_000002.11:g.73799461A>T , CM000664.1:g.73799461A>T	GRCh37
NC_000002.10:g.73652969A>T	NCBI36
NG_011690.1:g.191582A>T , LRG_741:g.191582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10076A>T	ENSP00000507671.1:p.His3359Leu
ENST00000682801.1:c.10076A>T	ENSP00000507862.1:p.His3359Leu
ENST00000682859.1:c.10076A>T	ENSP00000508222.1:p.His3359Leu
ENST00000683791.1:c.3162A>T
ENST00000684460.1:c.7357A>T
ENST00000684548.1:c.10076A>T	ENSP00000507421.1:p.His3359Leu
ENST00000684590.1:c.4523A>T	ENSP00000507376.1:p.His1508Leu
ENST00000684656.1:c.7402A>T
ENST00000613296.6:c.10457A>T MANE Select	ENSP00000482968.1:p.His3486Leu
ENST00000651057.1:c.611A>T	ENSP00000498504.1:p.His204Leu
ENST00000651434.1:c.1813A>T
ENST00000652487.1:c.1554A>T
ENST00000423048.5:c.3948A>T	ENSP00000399833.1:n.3948A>T
ENST00000484298.5:c.10331A>T	ENSP00000478155.1:p.His3444Leu
ENST00000613296.4:c.10457A>T	ENSP00000482968.1:p.His3486Leu
ENST00000614410.4:c.10457A>T	ENSP00000479094.1:p.His3486Leu
ENST00000620466.4:n.4260A>T
NM_015120.4:c.10460A>T , LRG_741t1:c.10460A>T	NP_055935.4:p.His3487Leu
NM_001378454.1:c.10457A>T MANE Select	NP_001365383.1:p.His3486Leu