Canonical Allele Identifier: CA347282812

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799436A>G (hg19) ; chr2:g.73572309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572309A>G , CM000664.2:g.73572309A>G	GRCh38
NC_000002.11:g.73799436A>G , CM000664.1:g.73799436A>G	GRCh37
NC_000002.10:g.73652944A>G	NCBI36
NG_011690.1:g.191557A>G , LRG_741:g.191557A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10051A>G	ENSP00000507671.1:p.Arg3351Gly
ENST00000682801.1:c.10051A>G	ENSP00000507862.1:p.Arg3351Gly
ENST00000682859.1:c.10051A>G	ENSP00000508222.1:p.Arg3351Gly
ENST00000683791.1:c.3137A>G
ENST00000684460.1:c.7332A>G
ENST00000684548.1:c.10051A>G	ENSP00000507421.1:p.Arg3351Gly
ENST00000684590.1:c.4498A>G	ENSP00000507376.1:p.Arg1500Gly
ENST00000684656.1:c.7377A>G
ENST00000613296.6:c.10432A>G MANE Select	ENSP00000482968.1:p.Arg3478Gly
ENST00000651057.1:c.586A>G	ENSP00000498504.1:p.Arg196Gly
ENST00000651434.1:c.1788A>G
ENST00000652487.1:c.1529A>G
ENST00000423048.5:c.3923A>G	ENSP00000399833.1:n.3923A>G
ENST00000484298.5:c.10306A>G	ENSP00000478155.1:p.Arg3436Gly
ENST00000613296.4:c.10432A>G	ENSP00000482968.1:p.Arg3478Gly
ENST00000614410.4:c.10432A>G	ENSP00000479094.1:p.Arg3478Gly
ENST00000620466.4:n.4235A>G
NM_015120.4:c.10435A>G , LRG_741t1:c.10435A>G	NP_055935.4:p.Arg3479Gly
NM_001378454.1:c.10432A>G MANE Select	NP_001365383.1:p.Arg3478Gly