Canonical Allele Identifier: CA50386456

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1123978
• ClinVar RCV Id: RCV001455222
• dbSNP Id: rs878948308
• MyVariant Identifiers: chr2:g.73799816G>A (hg19) ; chr2:g.73572689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572689G>A , CM000664.2:g.73572689G>A	GRCh38
NC_000002.11:g.73799816G>A , CM000664.1:g.73799816G>A	GRCh37
NC_000002.10:g.73653324G>A	NCBI36
NG_011690.1:g.191937G>A , LRG_741:g.191937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10431G>A	ENSP00000507671.1:p.Lys3477=
ENST00000682801.1:c.10431G>A	ENSP00000507862.1:p.Lys3477=
ENST00000682859.1:c.10431G>A	ENSP00000508222.1:p.Lys3477=
ENST00000683791.1:c.3517G>A
ENST00000684460.1:c.7712G>A
ENST00000684548.1:c.10431G>A	ENSP00000507421.1:p.Lys3477=
ENST00000684590.1:c.4878G>A	ENSP00000507376.1:p.Lys1626=
ENST00000684656.1:c.7757G>A
ENST00000613296.6:c.10812G>A MANE Select	ENSP00000482968.1:p.Lys3604=
ENST00000651057.1:c.966G>A	ENSP00000498504.1:p.Lys322=
ENST00000651434.1:c.2168G>A
ENST00000651750.1:c.200G>A
ENST00000652487.1:c.1909G>A
ENST00000423048.5:c.4303G>A	ENSP00000399833.1:n.4303G>A
ENST00000484298.5:c.10686G>A	ENSP00000478155.1:p.Lys3562=
ENST00000613296.4:c.10812G>A	ENSP00000482968.1:p.Lys3604=
ENST00000614410.4:c.10812G>A	ENSP00000479094.1:p.Lys3604=
ENST00000620466.4:n.4615G>A
NM_015120.4:c.10815G>A , LRG_741t1:c.10815G>A	NP_055935.4:p.Lys3605=
NM_001378454.1:c.10812G>A MANE Select	NP_001365383.1:p.Lys3604=