Canonical Allele Identifier: CA1715114

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572947C>T , CM000664.2:g.73572947C>T	GRCh38
NC_000002.11:g.73800074C>T , CM000664.1:g.73800074C>T	GRCh37
NC_000002.10:g.73653582C>T	NCBI36
NG_011690.1:g.192195C>T , LRG_741:g.192195C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11070C>T MANE Select	NP_001365383.1:p.Gly3690=
ENST00000613296.6:c.11070C>T MANE Select	ENSP00000482968.1:p.Gly3690=
NM_015120.4:c.11073C>T , LRG_741t1:c.11073C>T	NP_055935.4:p.Gly3691=
ENST00000423048.5:c.4561C>T	ENSP00000399833.1:n.4561C>T
ENST00000484298.5:c.10944C>T	ENSP00000478155.1:p.Gly3648=
ENST00000613296.4:c.11070C>T	ENSP00000482968.1:p.Gly3690=
ENST00000614410.4:c.11070C>T	ENSP00000479094.1:p.Gly3690=
ENST00000620466.4:n.4873C>T
ENST00000651057.1:c.1224C>T	ENSP00000498504.1:p.Gly408=
ENST00000651434.1:c.2426C>T
ENST00000651750.1:c.458C>T
ENST00000652487.1:c.2167C>T
ENST00000682565.1:c.10689C>T	ENSP00000507671.1:p.Gly3563=
ENST00000682801.1:c.10689C>T	ENSP00000507862.1:p.Gly3563=
ENST00000682859.1:c.10689C>T	ENSP00000508222.1:p.Gly3563=
ENST00000683791.1:c.3775C>T
ENST00000684460.1:c.7970C>T
ENST00000684548.1:c.10689C>T	ENSP00000507421.1:p.Gly3563=
ENST00000684590.1:c.5136C>T	ENSP00000507376.1:p.Gly1712=
ENST00000684656.1:c.8015C>T