Canonical Allele Identifier: CA347266297

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828447C>A (hg19) ; chr2:g.73601320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601320C>A , CM000664.2:g.73601320C>A	GRCh38
NC_000002.11:g.73828447C>A , CM000664.1:g.73828447C>A	GRCh37
NC_000002.10:g.73681955C>A	NCBI36
NG_011690.1:g.220568C>A , LRG_741:g.220568C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11617C>A	ENSP00000507671.1:p.Pro3873Thr
ENST00000682801.1:c.11167-865C>A	ENSP00000507862.1:n.11167-865C>A
ENST00000682859.1:c.11617C>A	ENSP00000508222.1:p.Pro3873Thr
ENST00000683791.1:c.4703C>A
ENST00000684460.1:c.8898C>A
ENST00000684548.1:c.11617C>A	ENSP00000507421.1:p.Pro3873Thr
ENST00000684590.1:c.6064C>A	ENSP00000507376.1:p.Pro2022Thr
ENST00000684656.1:c.9082C>A
ENST00000613296.6:c.11998C>A MANE Select	ENSP00000482968.1:p.Pro4000Thr
ENST00000651057.1:c.2152C>A	ENSP00000498504.1:p.Pro718Thr
ENST00000651434.1:c.3354C>A
ENST00000651750.1:c.1260+439C>A
ENST00000652487.1:c.3169C>A
ENST00000464408.3:n.173C>A
ENST00000484298.5:c.11872C>A	ENSP00000478155.1:p.Pro3958Thr
ENST00000613296.4:c.11998C>A	ENSP00000482968.1:p.Pro4000Thr
ENST00000620466.4:n.5801C>A
NM_015120.4:c.12001C>A , LRG_741t1:c.12001C>A	NP_055935.4:p.Pro4001Thr
NM_001378454.1:c.11998C>A MANE Select	NP_001365383.1:p.Pro4000Thr