Canonical Allele Identifier: CA347266834

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828508C>A (hg19) ; chr2:g.73601381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601381C>A , CM000664.2:g.73601381C>A	GRCh38
NC_000002.11:g.73828508C>A , CM000664.1:g.73828508C>A	GRCh37
NC_000002.10:g.73682016C>A	NCBI36
NG_011690.1:g.220629C>A , LRG_741:g.220629C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11678C>A	ENSP00000507671.1:p.Pro3893Gln
ENST00000682801.1:c.11167-804C>A	ENSP00000507862.1:n.11167-804C>A
ENST00000682859.1:c.11678C>A	ENSP00000508222.1:p.Pro3893Gln
ENST00000683791.1:c.4764C>A
ENST00000684460.1:c.8959C>A
ENST00000684548.1:c.11678C>A	ENSP00000507421.1:p.Pro3893Gln
ENST00000684590.1:c.6125C>A	ENSP00000507376.1:p.Pro2042Gln
ENST00000684656.1:c.9143C>A
ENST00000613296.6:c.12059C>A MANE Select	ENSP00000482968.1:p.Pro4020Gln
ENST00000651057.1:c.2213C>A	ENSP00000498504.1:p.Pro738Gln
ENST00000651434.1:c.3415C>A
ENST00000651750.1:c.1260+500C>A
ENST00000652487.1:c.3230C>A
ENST00000464408.3:n.234C>A
ENST00000484298.5:c.11933C>A	ENSP00000478155.1:p.Pro3978Gln
ENST00000613296.4:c.12059C>A	ENSP00000482968.1:p.Pro4020Gln
ENST00000620466.4:n.5862C>A
NM_015120.4:c.12062C>A , LRG_741t1:c.12062C>A	NP_055935.4:p.Pro4021Gln
NM_001378454.1:c.12059C>A MANE Select	NP_001365383.1:p.Pro4020Gln