Canonical Allele Identifier: CA1714946

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73558984C>G , CM000664.2:g.73558984C>G	GRCh38
NC_000002.11:g.73786111C>G , CM000664.1:g.73786111C>G	GRCh37
NC_000002.10:g.73639619C>G	NCBI36
NG_011690.1:g.178232C>G , LRG_741:g.178232C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10226C>G MANE Select	NP_001365383.1:p.Ala3409Gly
ENST00000613296.6:c.10226C>G MANE Select	ENSP00000482968.1:p.Ala3409Gly
NM_015120.4:c.10229C>G , LRG_741t1:c.10229C>G	NP_055935.4:p.Ala3410Gly
ENST00000423048.5:c.3717C>G	ENSP00000399833.1:n.3717C>G
ENST00000484298.5:c.10100C>G	ENSP00000478155.1:p.Ala3367Gly
ENST00000613296.4:c.10226C>G	ENSP00000482968.1:p.Ala3409Gly
ENST00000614410.4:c.10226C>G	ENSP00000479094.1:p.Ala3409Gly
ENST00000620466.4:n.4029C>G
ENST00000651057.1:c.380C>G	ENSP00000498504.1:p.Ala127Gly
ENST00000651434.1:c.1582C>G
ENST00000652487.1:c.1323C>G
ENST00000682565.1:c.9845C>G	ENSP00000507671.1:p.Ala3282Gly
ENST00000682801.1:c.9845C>G	ENSP00000507862.1:p.Ala3282Gly
ENST00000682859.1:c.9845C>G	ENSP00000508222.1:p.Ala3282Gly
ENST00000683791.1:c.3089+8547C>G
ENST00000684460.1:c.7126C>G
ENST00000684548.1:c.9845C>G	ENSP00000507421.1:p.Ala3282Gly
ENST00000684590.1:c.4292C>G	ENSP00000507376.1:p.Ala1431Gly
ENST00000684656.1:c.7171C>G