Canonical Allele Identifier: CA2750469823

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601478G>C , CM000664.2:g.73601478G>C	GRCh38
NC_000002.11:g.73828605G>C , CM000664.1:g.73828605G>C	GRCh37
NC_000002.10:g.73682113G>C	NCBI36
NG_011690.1:g.220726G>C , LRG_741:g.220726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+42G>C	ENSP00000507671.1:n.11733+42G>C
ENST00000682801.1:c.11167-707G>C	ENSP00000507862.1:n.11167-707G>C
ENST00000682859.1:c.11733+42G>C	ENSP00000508222.1:n.11733+42G>C
ENST00000683791.1:c.4819+42G>C
ENST00000684460.1:c.9014+42G>C
ENST00000684548.1:c.11733+42G>C	ENSP00000507421.1:n.11733+42G>C
ENST00000684590.1:c.6180+42G>C	ENSP00000507376.1:n.6180+42G>C
ENST00000684656.1:c.9198+42G>C
ENST00000613296.6:c.12114+42G>C MANE Select	ENSP00000482968.1:n.12114+42G>C
ENST00000651057.1:c.2268+42G>C	ENSP00000498504.1:n.2268+42G>C
ENST00000651434.1:c.3470+42G>C
ENST00000651750.1:c.1260+597G>C
ENST00000652487.1:c.3285+42G>C
ENST00000464408.3:n.289+42G>C
ENST00000484298.5:c.11988+42G>C	ENSP00000478155.1:n.11988+42G>C
ENST00000613296.4:c.12114+42G>C	ENSP00000482968.1:n.12114+42G>C
ENST00000620466.4:n.5917+42G>C
NM_015120.4:c.12117+42G>C , LRG_741t1:c.12117+42G>C	NP_055935.4:n.12117+42G>C
NM_001378454.1:c.12114+42G>C MANE Select	NP_001365383.1:n.12114+42G>C