Canonical Allele Identifier: CA427024292

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572309-A-C
• MyVariant Identifiers: chr2:g.73799436A>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10051A>C	ENSP00000507671.1:p.Arg3351=
ENST00000682801.1:c.10051A>C	ENSP00000507862.1:p.Arg3351=
ENST00000682859.1:c.10051A>C	ENSP00000508222.1:p.Arg3351=
ENST00000683791.1:c.3137A>C
ENST00000684460.1:c.7332A>C
ENST00000684548.1:c.10051A>C	ENSP00000507421.1:p.Arg3351=
ENST00000684590.1:c.4498A>C	ENSP00000507376.1:p.Arg1500=
ENST00000684656.1:c.7377A>C
ENST00000613296.6:c.10432A>C MANE Select	ENSP00000482968.1:p.Arg3478=
ENST00000651057.1:c.586A>C	ENSP00000498504.1:p.Arg196=
ENST00000651434.1:c.1788A>C
ENST00000652487.1:c.1529A>C
ENST00000423048.5:c.3923A>C	ENSP00000399833.1:n.3923A>C
ENST00000484298.5:c.10306A>C	ENSP00000478155.1:p.Arg3436=
ENST00000613296.4:c.10432A>C	ENSP00000482968.1:p.Arg3478=
ENST00000614410.4:c.10432A>C	ENSP00000479094.1:p.Arg3478=
ENST00000620466.4:n.4235A>C
NM_015120.4:c.10435A>C , LRG_741t1:c.10435A>C	NP_055935.4:p.Arg3479=
NM_001378454.1:c.10432A>C MANE Select	NP_001365383.1:p.Arg3478=