Canonical Allele Identifier: CA426783574

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828458G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601331G>A , CM000664.2:g.73601331G>A	GRCh38
NC_000002.11:g.73828458G>A , CM000664.1:g.73828458G>A	GRCh37
NC_000002.10:g.73681966G>A	NCBI36
NG_011690.1:g.220579G>A , LRG_741:g.220579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11628G>A	ENSP00000507671.1:p.Glu3876=
ENST00000682801.1:c.11167-854G>A	ENSP00000507862.1:n.11167-854G>A
ENST00000682859.1:c.11628G>A	ENSP00000508222.1:p.Glu3876=
ENST00000683791.1:c.4714G>A
ENST00000684460.1:c.8909G>A
ENST00000684548.1:c.11628G>A	ENSP00000507421.1:p.Glu3876=
ENST00000684590.1:c.6075G>A	ENSP00000507376.1:p.Glu2025=
ENST00000684656.1:c.9093G>A
ENST00000613296.6:c.12009G>A MANE Select	ENSP00000482968.1:p.Glu4003=
ENST00000651057.1:c.2163G>A	ENSP00000498504.1:p.Glu721=
ENST00000651434.1:c.3365G>A
ENST00000651750.1:c.1260+450G>A
ENST00000652487.1:c.3180G>A
ENST00000464408.3:n.184G>A
ENST00000484298.5:c.11883G>A	ENSP00000478155.1:p.Glu3961=
ENST00000613296.4:c.12009G>A	ENSP00000482968.1:p.Glu4003=
ENST00000620466.4:n.5812G>A
NM_015120.4:c.12012G>A , LRG_741t1:c.12012G>A	NP_055935.4:p.Glu4004=
NM_001378454.1:c.12009G>A MANE Select	NP_001365383.1:p.Glu4003=