Canonical Allele Identifier: CA1714860

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73550438G>T , CM000664.2:g.73550438G>T	GRCh38
NC_000002.11:g.73777565G>T , CM000664.1:g.73777565G>T	GRCh37
NC_000002.10:g.73631073G>T	NCBI36
NG_011690.1:g.169686G>T , LRG_741:g.169686G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10078+1G>T MANE Select	NP_001365383.1:n.10078+1G>T
ENST00000613296.6:c.10078+1G>T MANE Select	ENSP00000482968.1:n.10078+1G>T
NM_015120.4:c.10081+1G>T , LRG_741t1:c.10081+1G>T	NP_055935.4:n.10081+1G>T
ENST00000423048.5:c.3569+1G>T	ENSP00000399833.1:n.3569+1G>T
ENST00000476650.2:n.199-6782G>T
ENST00000484298.5:c.9952+1G>T	ENSP00000478155.1:n.9952+1G>T
ENST00000613296.4:c.10078+1G>T	ENSP00000482968.1:n.10078+1G>T
ENST00000614410.4:c.10078+1G>T	ENSP00000479094.1:n.10078+1G>T
ENST00000620466.4:n.3881+1G>T
ENST00000651057.1:c.232+1G>T	ENSP00000498504.1:n.232+1G>T
ENST00000651434.1:c.1434+1G>T
ENST00000652487.1:c.1175+1G>T
ENST00000682565.1:c.9697+1G>T	ENSP00000507671.1:n.9697+1G>T
ENST00000682801.1:c.9697+1G>T	ENSP00000507862.1:n.9697+1G>T
ENST00000682859.1:c.9697+1G>T	ENSP00000508222.1:n.9697+1G>T
ENST00000683791.1:c.3089+1G>T
ENST00000684460.1:c.6979-6782G>T
ENST00000684548.1:c.9697+1G>T	ENSP00000507421.1:n.9697+1G>T
ENST00000684590.1:c.4144+1G>T	ENSP00000507376.1:n.4144+1G>T
ENST00000684656.1:c.7023+1G>T