Canonical Allele Identifier: CA426783595

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2701008
• ClinVar RCV Id: RCV003503477
• MyVariant Identifiers: chr2:g.73828494C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601367C>T , CM000664.2:g.73601367C>T	GRCh38
NC_000002.11:g.73828494C>T , CM000664.1:g.73828494C>T	GRCh37
NC_000002.10:g.73682002C>T	NCBI36
NG_011690.1:g.220615C>T , LRG_741:g.220615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11664C>T	ENSP00000507671.1:p.Gly3888=
ENST00000682801.1:c.11167-818C>T	ENSP00000507862.1:n.11167-818C>T
ENST00000682859.1:c.11664C>T	ENSP00000508222.1:p.Gly3888=
ENST00000683791.1:c.4750C>T
ENST00000684460.1:c.8945C>T
ENST00000684548.1:c.11664C>T	ENSP00000507421.1:p.Gly3888=
ENST00000684590.1:c.6111C>T	ENSP00000507376.1:p.Gly2037=
ENST00000684656.1:c.9129C>T
ENST00000613296.6:c.12045C>T MANE Select	ENSP00000482968.1:p.Gly4015=
ENST00000651057.1:c.2199C>T	ENSP00000498504.1:p.Gly733=
ENST00000651434.1:c.3401C>T
ENST00000651750.1:c.1260+486C>T
ENST00000652487.1:c.3216C>T
ENST00000464408.3:n.220C>T
ENST00000484298.5:c.11919C>T	ENSP00000478155.1:p.Gly3973=
ENST00000613296.4:c.12045C>T	ENSP00000482968.1:p.Gly4015=
ENST00000620466.4:n.5848C>T
NM_015120.4:c.12048C>T , LRG_741t1:c.12048C>T	NP_055935.4:p.Gly4016=
NM_001378454.1:c.12045C>T MANE Select	NP_001365383.1:p.Gly4015=