Canonical Allele Identifier: CA347265743

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828381C>A (hg19) ; chr2:g.73601254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601254C>A , CM000664.2:g.73601254C>A	GRCh38
NC_000002.11:g.73828381C>A , CM000664.1:g.73828381C>A	GRCh37
NC_000002.10:g.73681889C>A	NCBI36
NG_011690.1:g.220502C>A , LRG_741:g.220502C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11551C>A	ENSP00000507671.1:p.Pro3851Thr
ENST00000682801.1:c.11167-931C>A	ENSP00000507862.1:n.11167-931C>A
ENST00000682859.1:c.11551C>A	ENSP00000508222.1:p.Pro3851Thr
ENST00000683791.1:c.4637C>A
ENST00000684460.1:c.8832C>A
ENST00000684548.1:c.11551C>A	ENSP00000507421.1:p.Pro3851Thr
ENST00000684590.1:c.5998C>A	ENSP00000507376.1:p.Pro2000Thr
ENST00000684656.1:c.9016C>A
ENST00000613296.6:c.11932C>A MANE Select	ENSP00000482968.1:p.Pro3978Thr
ENST00000651057.1:c.2086C>A	ENSP00000498504.1:p.Pro696Thr
ENST00000651434.1:c.3288C>A
ENST00000651750.1:c.1260+373C>A
ENST00000652487.1:c.3103C>A
ENST00000464408.3:n.107C>A
ENST00000484298.5:c.11806C>A	ENSP00000478155.1:p.Pro3936Thr
ENST00000613296.4:c.11932C>A	ENSP00000482968.1:p.Pro3978Thr
ENST00000620466.4:n.5735C>A
NM_015120.4:c.11935C>A , LRG_741t1:c.11935C>A	NP_055935.4:p.Pro3979Thr
NM_001378454.1:c.11932C>A MANE Select	NP_001365383.1:p.Pro3978Thr