Canonical Allele Identifier: CA1714188

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453672A>G , CM000664.2:g.73453672A>G	GRCh38
NC_000002.11:g.73680799A>G , CM000664.1:g.73680799A>G	GRCh37
NC_000002.10:g.73534307A>G	NCBI36
NG_011690.1:g.72920A>G , LRG_741:g.72920A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7145A>G MANE Select	NP_001365383.1:p.Gln2382Arg
ENST00000613296.6:c.7145A>G MANE Select	ENSP00000482968.1:p.Gln2382Arg
NM_015120.4:c.7148A>G , LRG_741t1:c.7148A>G	NP_055935.4:p.Gln2383Arg
ENST00000423048.5:c.1976A>G	ENSP00000399833.1:p.Gln659Arg
ENST00000484298.5:c.7019A>G	ENSP00000478155.1:p.Gln2340Arg
ENST00000613296.4:c.7145A>G	ENSP00000482968.1:p.Gln2382Arg
ENST00000614410.4:c.7145A>G	ENSP00000479094.1:p.Gln2382Arg
ENST00000620466.4:n.948A>G
ENST00000651434.1:c.366A>G
ENST00000682565.1:c.6764A>G	ENSP00000507671.1:p.Gln2255Arg
ENST00000682801.1:c.6764A>G	ENSP00000507862.1:p.Gln2255Arg
ENST00000682859.1:c.6764A>G	ENSP00000508222.1:p.Gln2255Arg
ENST00000683791.1:c.685+21381A>G
ENST00000684197.1:n.2114A>G
ENST00000684460.1:c.4216A>G
ENST00000684548.1:c.6764A>G	ENSP00000507421.1:p.Gln2255Arg
ENST00000684590.1:c.1262A>G	ENSP00000507376.1:p.Gln421Arg
ENST00000684656.1:c.4216A>G