Canonical Allele Identifier: CA1713131

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73432204A>G , CM000664.2:g.73432204A>G	GRCh38
NC_000002.11:g.73659332A>G , CM000664.1:g.73659332A>G	GRCh37
NC_000002.10:g.73512840A>G	NCBI36
NG_011690.1:g.51450A>G , LRG_741:g.51450A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1345A>G MANE Select	NP_001365383.1:p.Arg449Gly
ENST00000613296.6:c.1345A>G MANE Select	ENSP00000482968.1:p.Arg449Gly
NM_015120.4:c.1348A>G , LRG_741t1:c.1348A>G	NP_055935.4:p.Arg450Gly
ENST00000484298.5:c.1219A>G	ENSP00000478155.1:p.Arg407Gly
ENST00000613296.4:c.1345A>G	ENSP00000482968.1:p.Arg449Gly
ENST00000614410.4:c.1345A>G	ENSP00000479094.1:p.Arg449Gly
ENST00000682565.1:c.964A>G	ENSP00000507671.1:p.Arg322Gly
ENST00000682801.1:c.964A>G	ENSP00000507862.1:p.Arg322Gly
ENST00000682859.1:c.964A>G	ENSP00000508222.1:p.Arg322Gly
ENST00000682889.1:n.1310A>G
ENST00000683791.1:c.598A>G
ENST00000684548.1:c.964A>G	ENSP00000507421.1:p.Arg322Gly