Canonical Allele Identifier: CA347266411

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828462A>C (hg19) ; chr2:g.73601335A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601335A>C , CM000664.2:g.73601335A>C	GRCh38
NC_000002.11:g.73828462A>C , CM000664.1:g.73828462A>C	GRCh37
NC_000002.10:g.73681970A>C	NCBI36
NG_011690.1:g.220583A>C , LRG_741:g.220583A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11632A>C	ENSP00000507671.1:p.Asn3878His
ENST00000682801.1:c.11167-850A>C	ENSP00000507862.1:n.11167-850A>C
ENST00000682859.1:c.11632A>C	ENSP00000508222.1:p.Asn3878His
ENST00000683791.1:c.4718A>C
ENST00000684460.1:c.8913A>C
ENST00000684548.1:c.11632A>C	ENSP00000507421.1:p.Asn3878His
ENST00000684590.1:c.6079A>C	ENSP00000507376.1:p.Asn2027His
ENST00000684656.1:c.9097A>C
ENST00000613296.6:c.12013A>C MANE Select	ENSP00000482968.1:p.Asn4005His
ENST00000651057.1:c.2167A>C	ENSP00000498504.1:p.Asn723His
ENST00000651434.1:c.3369A>C
ENST00000651750.1:c.1260+454A>C
ENST00000652487.1:c.3184A>C
ENST00000464408.3:n.188A>C
ENST00000484298.5:c.11887A>C	ENSP00000478155.1:p.Asn3963His
ENST00000613296.4:c.12013A>C	ENSP00000482968.1:p.Asn4005His
ENST00000620466.4:n.5816A>C
NM_015120.4:c.12016A>C , LRG_741t1:c.12016A>C	NP_055935.4:p.Asn4006His
NM_001378454.1:c.12013A>C MANE Select	NP_001365383.1:p.Asn4005His