Canonical Allele Identifier: CA347271756

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73603305G>A , CM000664.2:g.73603305G>A	GRCh38
NC_000002.11:g.73830432G>A , CM000664.1:g.73830432G>A	GRCh37
NC_000002.10:g.73683940G>A	NCBI36
NG_011690.1:g.222553G>A , LRG_741:g.222553G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12362+1G>A MANE Select	NP_001365383.1:n.12362+1G>A
ENST00000613296.6:c.12362+1G>A MANE Select	ENSP00000482968.1:n.12362+1G>A
NM_015120.4:c.12365+1G>A , LRG_741t1:c.12365+1G>A	NP_055935.4:n.12365+1G>A
ENST00000464408.3:n.537+1G>A
ENST00000484298.5:c.12236+1G>A	ENSP00000478155.1:n.12236+1G>A
ENST00000490821.1:n.6+1G>A
ENST00000613296.4:c.12362+1G>A	ENSP00000482968.1:n.12362+1G>A
ENST00000620466.4:n.6166G>A
ENST00000651057.1:c.2516+1G>A	ENSP00000498504.1:n.2516+1G>A
ENST00000651434.1:c.3718+1G>A
ENST00000651750.1:c.1508+1G>A
ENST00000652487.1:c.3533+1G>A
ENST00000682565.1:c.11981+1G>A	ENSP00000507671.1:n.11981+1G>A
ENST00000682801.1:c.11414+1G>A	ENSP00000507862.1:n.11414+1G>A
ENST00000682859.1:c.11981+1G>A	ENSP00000508222.1:n.11981+1G>A
ENST00000683791.1:c.5067+1G>A
ENST00000684460.1:c.9262+1G>A
ENST00000684548.1:c.11981+1G>A	ENSP00000507421.1:n.11981+1G>A
ENST00000684590.1:c.6428+1G>A	ENSP00000507376.1:n.6428+1G>A
ENST00000684656.1:c.9446+1G>A