Canonical Allele Identifier: CA1713054

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424792C>G , CM000664.2:g.73424792C>G	GRCh38
NC_000002.11:g.73651920C>G , CM000664.1:g.73651920C>G	GRCh37
NC_000002.10:g.73505428C>G	NCBI36
NG_011690.1:g.44038C>G , LRG_741:g.44038C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1127C>G MANE Select	NP_001365383.1:p.Thr376Ser
ENST00000613296.6:c.1127C>G MANE Select	ENSP00000482968.1:p.Thr376Ser
NM_015120.4:c.1130C>G , LRG_741t1:c.1130C>G	NP_055935.4:p.Thr377Ser
ENST00000484298.5:c.1001C>G	ENSP00000478155.1:p.Thr334Ser
ENST00000613296.4:c.1127C>G	ENSP00000482968.1:p.Thr376Ser
ENST00000614410.4:c.1127C>G	ENSP00000479094.1:p.Thr376Ser
ENST00000682565.1:c.677C>G	ENSP00000507671.1:p.Thr226Ser
ENST00000682675.1:n.1087C>G
ENST00000682801.1:c.677C>G	ENSP00000507862.1:p.Thr226Ser
ENST00000682859.1:c.677C>G	ENSP00000508222.1:p.Thr226Ser
ENST00000682889.1:n.1092C>G
ENST00000683791.1:c.481C>G
ENST00000684548.1:c.677C>G	ENSP00000507421.1:p.Thr226Ser