Canonical Allele Identifier: CA347265874

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828399G>C (hg19) ; chr2:g.73601272G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601272G>C , CM000664.2:g.73601272G>C	GRCh38
NC_000002.11:g.73828399G>C , CM000664.1:g.73828399G>C	GRCh37
NC_000002.10:g.73681907G>C	NCBI36
NG_011690.1:g.220520G>C , LRG_741:g.220520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11569G>C	ENSP00000507671.1:p.Gly3857Arg
ENST00000682801.1:c.11167-913G>C	ENSP00000507862.1:n.11167-913G>C
ENST00000682859.1:c.11569G>C	ENSP00000508222.1:p.Gly3857Arg
ENST00000683791.1:c.4655G>C
ENST00000684460.1:c.8850G>C
ENST00000684548.1:c.11569G>C	ENSP00000507421.1:p.Gly3857Arg
ENST00000684590.1:c.6016G>C	ENSP00000507376.1:p.Gly2006Arg
ENST00000684656.1:c.9034G>C
ENST00000613296.6:c.11950G>C MANE Select	ENSP00000482968.1:p.Gly3984Arg
ENST00000651057.1:c.2104G>C	ENSP00000498504.1:p.Gly702Arg
ENST00000651434.1:c.3306G>C
ENST00000651750.1:c.1260+391G>C
ENST00000652487.1:c.3121G>C
ENST00000464408.3:n.125G>C
ENST00000484298.5:c.11824G>C	ENSP00000478155.1:p.Gly3942Arg
ENST00000613296.4:c.11950G>C	ENSP00000482968.1:p.Gly3984Arg
ENST00000620466.4:n.5753G>C
NM_015120.4:c.11953G>C , LRG_741t1:c.11953G>C	NP_055935.4:p.Gly3985Arg
NM_001378454.1:c.11950G>C MANE Select	NP_001365383.1:p.Gly3984Arg