Canonical Allele Identifier: CA347293219

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73455296G>A , CM000664.2:g.73455296G>A	GRCh38
NC_000002.11:g.73682423G>A , CM000664.1:g.73682423G>A	GRCh37
NC_000002.10:g.73535931G>A	NCBI36
NG_011690.1:g.74544G>A , LRG_741:g.74544G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7674+1G>A MANE Select	NP_001365383.1:n.7674+1G>A
ENST00000613296.6:c.7674+1G>A MANE Select	ENSP00000482968.1:n.7674+1G>A
NM_015120.4:c.7677+1G>A , LRG_741t1:c.7677+1G>A	NP_055935.4:n.7677+1G>A
ENST00000423048.5:c.2505+1G>A	ENSP00000399833.1:n.2505+1G>A
ENST00000484298.5:c.7548+1G>A	ENSP00000478155.1:n.7548+1G>A
ENST00000613296.4:c.7674+1G>A	ENSP00000482968.1:n.7674+1G>A
ENST00000614410.4:c.7674+1G>A	ENSP00000479094.1:n.7674+1G>A
ENST00000620466.4:n.1477+1G>A
ENST00000651434.1:c.895+1G>A
ENST00000682565.1:c.7293+1G>A	ENSP00000507671.1:n.7293+1G>A
ENST00000682801.1:c.7293+1G>A	ENSP00000507862.1:n.7293+1G>A
ENST00000682859.1:c.7293+1G>A	ENSP00000508222.1:n.7293+1G>A
ENST00000683791.1:c.685+23005G>A
ENST00000684197.1:n.2644G>A
ENST00000684460.1:c.4745+1G>A
ENST00000684548.1:c.7293+1G>A	ENSP00000507421.1:n.7293+1G>A
ENST00000684590.1:c.1740+1G>A	ENSP00000507376.1:n.1740+1G>A
ENST00000684656.1:c.4745+1G>A