Canonical Allele Identifier: CA347267275

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 917690
• ClinVar RCV Id: RCV001174839
• dbSNP Id: rs1675685897
• MyVariant Identifiers: chr2:g.73828558C>G (hg19) ; chr2:g.73601431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601431C>G , CM000664.2:g.73601431C>G	GRCh38
NC_000002.11:g.73828558C>G , CM000664.1:g.73828558C>G	GRCh37
NC_000002.10:g.73682066C>G	NCBI36
NG_011690.1:g.220679C>G , LRG_741:g.220679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11728C>G	ENSP00000507671.1:p.Leu3910Val
ENST00000682801.1:c.11167-754C>G	ENSP00000507862.1:n.11167-754C>G
ENST00000682859.1:c.11728C>G	ENSP00000508222.1:p.Leu3910Val
ENST00000683791.1:c.4814C>G
ENST00000684460.1:c.9009C>G
ENST00000684548.1:c.11728C>G	ENSP00000507421.1:p.Leu3910Val
ENST00000684590.1:c.6175C>G	ENSP00000507376.1:p.Leu2059Val
ENST00000684656.1:c.9193C>G
ENST00000613296.6:c.12109C>G MANE Select	ENSP00000482968.1:p.Leu4037Val
ENST00000651057.1:c.2263C>G	ENSP00000498504.1:p.Leu755Val
ENST00000651434.1:c.3465C>G
ENST00000651750.1:c.1260+550C>G
ENST00000652487.1:c.3280C>G
ENST00000464408.3:n.284C>G
ENST00000484298.5:c.11983C>G	ENSP00000478155.1:p.Leu3995Val
ENST00000613296.4:c.12109C>G	ENSP00000482968.1:p.Leu4037Val
ENST00000620466.4:n.5912C>G
NM_015120.4:c.12112C>G , LRG_741t1:c.12112C>G	NP_055935.4:p.Leu4038Val
NM_001378454.1:c.12109C>G MANE Select	NP_001365383.1:p.Leu4037Val