Canonical Allele Identifier: CA427024049

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799903T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572776T>A , CM000664.2:g.73572776T>A	GRCh38
NC_000002.11:g.73799903T>A , CM000664.1:g.73799903T>A	GRCh37
NC_000002.10:g.73653411T>A	NCBI36
NG_011690.1:g.192024T>A , LRG_741:g.192024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10518T>A	ENSP00000507671.1:p.Ala3506=
ENST00000682801.1:c.10518T>A	ENSP00000507862.1:p.Ala3506=
ENST00000682859.1:c.10518T>A	ENSP00000508222.1:p.Ala3506=
ENST00000683791.1:c.3604T>A
ENST00000684460.1:c.7799T>A
ENST00000684548.1:c.10518T>A	ENSP00000507421.1:p.Ala3506=
ENST00000684590.1:c.4965T>A	ENSP00000507376.1:p.Ala1655=
ENST00000684656.1:c.7844T>A
ENST00000613296.6:c.10899T>A MANE Select	ENSP00000482968.1:p.Ala3633=
ENST00000651057.1:c.1053T>A	ENSP00000498504.1:p.Ala351=
ENST00000651434.1:c.2255T>A
ENST00000651750.1:c.287T>A
ENST00000652487.1:c.1996T>A
ENST00000423048.5:c.4390T>A	ENSP00000399833.1:n.4390T>A
ENST00000484298.5:c.10773T>A	ENSP00000478155.1:p.Ala3591=
ENST00000613296.4:c.10899T>A	ENSP00000482968.1:p.Ala3633=
ENST00000614410.4:c.10899T>A	ENSP00000479094.1:p.Ala3633=
ENST00000620466.4:n.4702T>A
NM_015120.4:c.10902T>A , LRG_741t1:c.10902T>A	NP_055935.4:p.Ala3634=
NM_001378454.1:c.10899T>A MANE Select	NP_001365383.1:p.Ala3633=