Canonical Allele Identifier: CA427024706

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2810249
• ClinVar RCV Id: RCV003610118
• MyVariant Identifiers: chr2:g.73799573A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572446A>G , CM000664.2:g.73572446A>G	GRCh38
NC_000002.11:g.73799573A>G , CM000664.1:g.73799573A>G	GRCh37
NC_000002.10:g.73653081A>G	NCBI36
NG_011690.1:g.191694A>G , LRG_741:g.191694A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10188A>G	ENSP00000507671.1:p.Arg3396=
ENST00000682801.1:c.10188A>G	ENSP00000507862.1:p.Arg3396=
ENST00000682859.1:c.10188A>G	ENSP00000508222.1:p.Arg3396=
ENST00000683791.1:c.3274A>G
ENST00000684460.1:c.7469A>G
ENST00000684548.1:c.10188A>G	ENSP00000507421.1:p.Arg3396=
ENST00000684590.1:c.4635A>G	ENSP00000507376.1:p.Arg1545=
ENST00000684656.1:c.7514A>G
ENST00000613296.6:c.10569A>G MANE Select	ENSP00000482968.1:p.Arg3523=
ENST00000651057.1:c.723A>G	ENSP00000498504.1:p.Arg241=
ENST00000651434.1:c.1925A>G
ENST00000652487.1:c.1666A>G
ENST00000423048.5:c.4060A>G	ENSP00000399833.1:n.4060A>G
ENST00000484298.5:c.10443A>G	ENSP00000478155.1:p.Arg3481=
ENST00000613296.4:c.10569A>G	ENSP00000482968.1:p.Arg3523=
ENST00000614410.4:c.10569A>G	ENSP00000479094.1:p.Arg3523=
ENST00000620466.4:n.4372A>G
NM_015120.4:c.10572A>G , LRG_741t1:c.10572A>G	NP_055935.4:p.Arg3524=
NM_001378454.1:c.10569A>G MANE Select	NP_001365383.1:p.Arg3523=