Canonical Allele Identifier: CA347266290

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828446G>T (hg19) ; chr2:g.73601319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601319G>T , CM000664.2:g.73601319G>T	GRCh38
NC_000002.11:g.73828446G>T , CM000664.1:g.73828446G>T	GRCh37
NC_000002.10:g.73681954G>T	NCBI36
NG_011690.1:g.220567G>T , LRG_741:g.220567G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11616G>T	ENSP00000507671.1:p.Glu3872Asp
ENST00000682801.1:c.11167-866G>T	ENSP00000507862.1:n.11167-866G>T
ENST00000682859.1:c.11616G>T	ENSP00000508222.1:p.Glu3872Asp
ENST00000683791.1:c.4702G>T
ENST00000684460.1:c.8897G>T
ENST00000684548.1:c.11616G>T	ENSP00000507421.1:p.Glu3872Asp
ENST00000684590.1:c.6063G>T	ENSP00000507376.1:p.Glu2021Asp
ENST00000684656.1:c.9081G>T
ENST00000613296.6:c.11997G>T MANE Select	ENSP00000482968.1:p.Glu3999Asp
ENST00000651057.1:c.2151G>T	ENSP00000498504.1:p.Glu717Asp
ENST00000651434.1:c.3353G>T
ENST00000651750.1:c.1260+438G>T
ENST00000652487.1:c.3168G>T
ENST00000464408.3:n.172G>T
ENST00000484298.5:c.11871G>T	ENSP00000478155.1:p.Glu3957Asp
ENST00000613296.4:c.11997G>T	ENSP00000482968.1:p.Glu3999Asp
ENST00000620466.4:n.5800G>T
NM_015120.4:c.12000G>T , LRG_741t1:c.12000G>T	NP_055935.4:p.Glu4000Asp
NM_001378454.1:c.11997G>T MANE Select	NP_001365383.1:p.Glu3999Asp