Canonical Allele Identifier: CA347266207

Gene: ALMS1

Linked Data

• dbSNP Id: rs1474379471
• MyVariant Identifiers: chr2:g.73828438T>C (hg19) ; chr2:g.73601311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601311T>C , CM000664.2:g.73601311T>C	GRCh38
NC_000002.11:g.73828438T>C , CM000664.1:g.73828438T>C	GRCh37
NC_000002.10:g.73681946T>C	NCBI36
NG_011690.1:g.220559T>C , LRG_741:g.220559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11608T>C	ENSP00000507671.1:p.Trp3870Arg
ENST00000682801.1:c.11167-874T>C	ENSP00000507862.1:n.11167-874T>C
ENST00000682859.1:c.11608T>C	ENSP00000508222.1:p.Trp3870Arg
ENST00000683791.1:c.4694T>C
ENST00000684460.1:c.8889T>C
ENST00000684548.1:c.11608T>C	ENSP00000507421.1:p.Trp3870Arg
ENST00000684590.1:c.6055T>C	ENSP00000507376.1:p.Trp2019Arg
ENST00000684656.1:c.9073T>C
ENST00000613296.6:c.11989T>C MANE Select	ENSP00000482968.1:p.Trp3997Arg
ENST00000651057.1:c.2143T>C	ENSP00000498504.1:p.Trp715Arg
ENST00000651434.1:c.3345T>C
ENST00000651750.1:c.1260+430T>C
ENST00000652487.1:c.3160T>C
ENST00000464408.3:n.164T>C
ENST00000484298.5:c.11863T>C	ENSP00000478155.1:p.Trp3955Arg
ENST00000613296.4:c.11989T>C	ENSP00000482968.1:p.Trp3997Arg
ENST00000620466.4:n.5792T>C
NM_015120.4:c.11992T>C , LRG_741t1:c.11992T>C	NP_055935.4:p.Trp3998Arg
NM_001378454.1:c.11989T>C MANE Select	NP_001365383.1:p.Trp3997Arg