Canonical Allele Identifier: CA1712945

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 391952
• ClinVar RCV Id: RCV000445066 ; RCV000767098 ; RCV001080958 ; RCV002393053
• dbSNP Id: rs201478438
• ExAC: 2:73650097 T / A
• gnomAD v2: 2-73650097-T-A
• gnomAD v3: 2-73422969-T-A
• gnomAD v4: 2-73422969-T-A
• MyVariant Identifiers: chr2:g.73650097T>A (hg19) ; chr2:g.73422969T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73422969T>A , CM000664.2:g.73422969T>A	GRCh38
NC_000002.11:g.73650097T>A , CM000664.1:g.73650097T>A	GRCh37
NC_000002.10:g.73503605T>A	NCBI36
NG_011690.1:g.42215T>A , LRG_741:g.42215T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.309T>A	ENSP00000507671.1:p.Pro103=
ENST00000682675.1:n.719T>A
ENST00000682801.1:c.309T>A	ENSP00000507862.1:p.Pro103=
ENST00000682859.1:c.309T>A	ENSP00000508222.1:p.Pro103=
ENST00000682889.1:n.724T>A
ENST00000683791.1:c.113T>A
ENST00000684548.1:c.309T>A	ENSP00000507421.1:p.Pro103=
ENST00000613296.6:c.759T>A MANE Select	ENSP00000482968.1:p.Pro253=
ENST00000484298.5:c.633T>A	ENSP00000478155.1:p.Pro211=
ENST00000613296.4:c.759T>A	ENSP00000482968.1:p.Pro253=
ENST00000614410.4:c.759T>A	ENSP00000479094.1:p.Pro253=
NM_015120.4:c.762T>A , LRG_741t1:c.762T>A	NP_055935.4:p.Pro254=
NM_001378454.1:c.759T>A MANE Select	NP_001365383.1:p.Pro253=