Canonical Allele Identifier: CA2750469875

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601533G>A , CM000664.2:g.73601533G>A	GRCh38
NC_000002.11:g.73828660G>A , CM000664.1:g.73828660G>A	GRCh37
NC_000002.10:g.73682168G>A	NCBI36
NG_011690.1:g.220781G>A , LRG_741:g.220781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+97G>A	ENSP00000507671.1:n.11733+97G>A
ENST00000682801.1:c.11167-652G>A	ENSP00000507862.1:n.11167-652G>A
ENST00000682859.1:c.11733+97G>A	ENSP00000508222.1:n.11733+97G>A
ENST00000683791.1:c.4819+97G>A
ENST00000684460.1:c.9014+97G>A
ENST00000684548.1:c.11733+97G>A	ENSP00000507421.1:n.11733+97G>A
ENST00000684590.1:c.6180+97G>A	ENSP00000507376.1:n.6180+97G>A
ENST00000684656.1:c.9198+97G>A
ENST00000613296.6:c.12114+97G>A MANE Select	ENSP00000482968.1:n.12114+97G>A
ENST00000651057.1:c.2268+97G>A	ENSP00000498504.1:n.2268+97G>A
ENST00000651434.1:c.3470+97G>A
ENST00000651750.1:c.1261-652G>A
ENST00000652487.1:c.3285+97G>A
ENST00000464408.3:n.289+97G>A
ENST00000484298.5:c.11988+97G>A	ENSP00000478155.1:n.11988+97G>A
ENST00000613296.4:c.12114+97G>A	ENSP00000482968.1:n.12114+97G>A
ENST00000620466.4:n.5917+97G>A
NM_015120.4:c.12117+97G>A , LRG_741t1:c.12117+97G>A	NP_055935.4:n.12117+97G>A
NM_001378454.1:c.12114+97G>A MANE Select	NP_001365383.1:n.12114+97G>A