Canonical Allele Identifier: CA347265625

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828366A>G (hg19) ; chr2:g.73601239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601239A>G , CM000664.2:g.73601239A>G	GRCh38
NC_000002.11:g.73828366A>G , CM000664.1:g.73828366A>G	GRCh37
NC_000002.10:g.73681874A>G	NCBI36
NG_011690.1:g.220487A>G , LRG_741:g.220487A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11536A>G	ENSP00000507671.1:p.Lys3846Glu
ENST00000682801.1:c.11167-946A>G	ENSP00000507862.1:n.11167-946A>G
ENST00000682859.1:c.11536A>G	ENSP00000508222.1:p.Lys3846Glu
ENST00000683791.1:c.4622A>G
ENST00000684460.1:c.8817A>G
ENST00000684548.1:c.11536A>G	ENSP00000507421.1:p.Lys3846Glu
ENST00000684590.1:c.5983A>G	ENSP00000507376.1:p.Lys1995Glu
ENST00000684656.1:c.9001A>G
ENST00000613296.6:c.11917A>G MANE Select	ENSP00000482968.1:p.Lys3973Glu
ENST00000651057.1:c.2071A>G	ENSP00000498504.1:p.Lys691Glu
ENST00000651434.1:c.3273A>G
ENST00000651750.1:c.1260+358A>G
ENST00000652487.1:c.3088A>G
ENST00000464408.3:n.92A>G
ENST00000484298.5:c.11791A>G	ENSP00000478155.1:p.Lys3931Glu
ENST00000613296.4:c.11917A>G	ENSP00000482968.1:p.Lys3973Glu
ENST00000620466.4:n.5720A>G
NM_015120.4:c.11920A>G , LRG_741t1:c.11920A>G	NP_055935.4:p.Lys3974Glu
NM_001378454.1:c.11917A>G MANE Select	NP_001365383.1:p.Lys3973Glu