Canonical Allele Identifier: CA426765284

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1158800
• ClinVar RCV Id: RCV001502344
• dbSNP Id: rs750225944
• gnomAD v4: 2-73489669-A-G
• MyVariant Identifiers: chr2:g.73716796A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489669A>G , CM000664.2:g.73489669A>G	GRCh38
NC_000002.11:g.73716796A>G , CM000664.1:g.73716796A>G	GRCh37
NC_000002.10:g.73570304A>G	NCBI36
NG_011690.1:g.108917A>G , LRG_741:g.108917A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7329A>G	ENSP00000507671.1:p.Pro2443=
ENST00000682801.1:c.7329A>G	ENSP00000507862.1:p.Pro2443=
ENST00000682859.1:c.7329A>G	ENSP00000508222.1:p.Pro2443=
ENST00000683791.1:c.721A>G
ENST00000684460.1:c.4781A>G
ENST00000684548.1:c.7329A>G	ENSP00000507421.1:p.Pro2443=
ENST00000684590.1:c.1776A>G	ENSP00000507376.1:p.Pro592=
ENST00000684656.1:c.4781A>G
ENST00000613296.6:c.7710A>G MANE Select	ENSP00000482968.1:p.Pro2570=
ENST00000651434.1:c.896-30106A>G
ENST00000423048.5:c.2541A>G	ENSP00000399833.1:p.Pro847=
ENST00000484298.5:c.7584A>G	ENSP00000478155.1:p.Pro2528=
ENST00000613296.4:c.7710A>G	ENSP00000482968.1:p.Pro2570=
ENST00000614410.4:c.7710A>G	ENSP00000479094.1:p.Pro2570=
ENST00000620466.4:n.1513A>G
NM_015120.4:c.7713A>G , LRG_741t1:c.7713A>G	NP_055935.4:p.Pro2571=
NM_001378454.1:c.7710A>G MANE Select	NP_001365383.1:p.Pro2570=