Canonical Allele Identifier: CA347266904

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828517A>T (hg19) ; chr2:g.73601390A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601390A>T , CM000664.2:g.73601390A>T	GRCh38
NC_000002.11:g.73828517A>T , CM000664.1:g.73828517A>T	GRCh37
NC_000002.10:g.73682025A>T	NCBI36
NG_011690.1:g.220638A>T , LRG_741:g.220638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11687A>T	ENSP00000507671.1:p.Glu3896Val
ENST00000682801.1:c.11167-795A>T	ENSP00000507862.1:n.11167-795A>T
ENST00000682859.1:c.11687A>T	ENSP00000508222.1:p.Glu3896Val
ENST00000683791.1:c.4773A>T
ENST00000684460.1:c.8968A>T
ENST00000684548.1:c.11687A>T	ENSP00000507421.1:p.Glu3896Val
ENST00000684590.1:c.6134A>T	ENSP00000507376.1:p.Glu2045Val
ENST00000684656.1:c.9152A>T
ENST00000613296.6:c.12068A>T MANE Select	ENSP00000482968.1:p.Glu4023Val
ENST00000651057.1:c.2222A>T	ENSP00000498504.1:p.Glu741Val
ENST00000651434.1:c.3424A>T
ENST00000651750.1:c.1260+509A>T
ENST00000652487.1:c.3239A>T
ENST00000464408.3:n.243A>T
ENST00000484298.5:c.11942A>T	ENSP00000478155.1:p.Glu3981Val
ENST00000613296.4:c.12068A>T	ENSP00000482968.1:p.Glu4023Val
ENST00000620466.4:n.5871A>T
NM_015120.4:c.12071A>T , LRG_741t1:c.12071A>T	NP_055935.4:p.Glu4024Val
NM_001378454.1:c.12068A>T MANE Select	NP_001365383.1:p.Glu4023Val