Canonical Allele Identifier: CA347265562

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828355A>G (hg19) ; chr2:g.73601228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601228A>G , CM000664.2:g.73601228A>G	GRCh38
NC_000002.11:g.73828355A>G , CM000664.1:g.73828355A>G	GRCh37
NC_000002.10:g.73681863A>G	NCBI36
NG_011690.1:g.220476A>G , LRG_741:g.220476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11525A>G	ENSP00000507671.1:p.Glu3842Gly
ENST00000682801.1:c.11167-957A>G	ENSP00000507862.1:n.11167-957A>G
ENST00000682859.1:c.11525A>G	ENSP00000508222.1:p.Glu3842Gly
ENST00000683791.1:c.4611A>G
ENST00000684460.1:c.8806A>G
ENST00000684548.1:c.11525A>G	ENSP00000507421.1:p.Glu3842Gly
ENST00000684590.1:c.5972A>G	ENSP00000507376.1:p.Glu1991Gly
ENST00000684656.1:c.8990A>G
ENST00000613296.6:c.11906A>G MANE Select	ENSP00000482968.1:p.Glu3969Gly
ENST00000651057.1:c.2060A>G	ENSP00000498504.1:p.Glu687Gly
ENST00000651434.1:c.3262A>G
ENST00000651750.1:c.1260+347A>G
ENST00000652487.1:c.3077A>G
ENST00000464408.3:n.81A>G
ENST00000484298.5:c.11780A>G	ENSP00000478155.1:p.Glu3927Gly
ENST00000613296.4:c.11906A>G	ENSP00000482968.1:p.Glu3969Gly
ENST00000620466.4:n.5709A>G
NM_015120.4:c.11909A>G , LRG_741t1:c.11909A>G	NP_055935.4:p.Glu3970Gly
NM_001378454.1:c.11906A>G MANE Select	NP_001365383.1:p.Glu3969Gly