Canonical Allele Identifier: CA2750469826

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601489A>C , CM000664.2:g.73601489A>C	GRCh38
NC_000002.11:g.73828616A>C , CM000664.1:g.73828616A>C	GRCh37
NC_000002.10:g.73682124A>C	NCBI36
NG_011690.1:g.220737A>C , LRG_741:g.220737A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+53A>C	ENSP00000507671.1:n.11733+53A>C
ENST00000682801.1:c.11167-696A>C	ENSP00000507862.1:n.11167-696A>C
ENST00000682859.1:c.11733+53A>C	ENSP00000508222.1:n.11733+53A>C
ENST00000683791.1:c.4819+53A>C
ENST00000684460.1:c.9014+53A>C
ENST00000684548.1:c.11733+53A>C	ENSP00000507421.1:n.11733+53A>C
ENST00000684590.1:c.6180+53A>C	ENSP00000507376.1:n.6180+53A>C
ENST00000684656.1:c.9198+53A>C
ENST00000613296.6:c.12114+53A>C MANE Select	ENSP00000482968.1:n.12114+53A>C
ENST00000651057.1:c.2268+53A>C	ENSP00000498504.1:n.2268+53A>C
ENST00000651434.1:c.3470+53A>C
ENST00000651750.1:c.1260+608A>C
ENST00000652487.1:c.3285+53A>C
ENST00000464408.3:n.289+53A>C
ENST00000484298.5:c.11988+53A>C	ENSP00000478155.1:n.11988+53A>C
ENST00000613296.4:c.12114+53A>C	ENSP00000482968.1:n.12114+53A>C
ENST00000620466.4:n.5917+53A>C
NM_015120.4:c.12117+53A>C , LRG_741t1:c.12117+53A>C	NP_055935.4:n.12117+53A>C
NM_001378454.1:c.12114+53A>C MANE Select	NP_001365383.1:n.12114+53A>C