Canonical Allele Identifier: CA427024191

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799706A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572579A>C , CM000664.2:g.73572579A>C	GRCh38
NC_000002.11:g.73799706A>C , CM000664.1:g.73799706A>C	GRCh37
NC_000002.10:g.73653214A>C	NCBI36
NG_011690.1:g.191827A>C , LRG_741:g.191827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10321A>C	ENSP00000507671.1:p.Arg3441=
ENST00000682801.1:c.10321A>C	ENSP00000507862.1:p.Arg3441=
ENST00000682859.1:c.10321A>C	ENSP00000508222.1:p.Arg3441=
ENST00000683791.1:c.3407A>C
ENST00000684460.1:c.7602A>C
ENST00000684548.1:c.10321A>C	ENSP00000507421.1:p.Arg3441=
ENST00000684590.1:c.4768A>C	ENSP00000507376.1:p.Arg1590=
ENST00000684656.1:c.7647A>C
ENST00000613296.6:c.10702A>C MANE Select	ENSP00000482968.1:p.Arg3568=
ENST00000651057.1:c.856A>C	ENSP00000498504.1:p.Arg286=
ENST00000651434.1:c.2058A>C
ENST00000651750.1:c.90A>C
ENST00000652487.1:c.1799A>C
ENST00000423048.5:c.4193A>C	ENSP00000399833.1:n.4193A>C
ENST00000484298.5:c.10576A>C	ENSP00000478155.1:p.Arg3526=
ENST00000613296.4:c.10702A>C	ENSP00000482968.1:p.Arg3568=
ENST00000614410.4:c.10702A>C	ENSP00000479094.1:p.Arg3568=
ENST00000620466.4:n.4505A>C
NM_015120.4:c.10705A>C , LRG_741t1:c.10705A>C	NP_055935.4:p.Arg3569=
NM_001378454.1:c.10702A>C MANE Select	NP_001365383.1:p.Arg3568=