Canonical Allele Identifier: CA261212

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 39748
• ClinVar RCV Id: RCV000032964
• dbSNP Id: rs397514576
• MyVariant Identifiers: chr2:g.73799946G>T (hg19) ; chr2:g.73572819G>T (hg38)
• PubMed: PMID:17594715 ; PMID:21901789

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572819G>T , CM000664.2:g.73572819G>T	GRCh38
NC_000002.11:g.73799946G>T , CM000664.1:g.73799946G>T	GRCh37
NC_000002.10:g.73653454G>T	NCBI36
NG_011690.1:g.192067G>T , LRG_741:g.192067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10561G>T	ENSP00000507671.1:p.Glu3521Ter
ENST00000682801.1:c.10561G>T	ENSP00000507862.1:p.Glu3521Ter
ENST00000682859.1:c.10561G>T	ENSP00000508222.1:p.Glu3521Ter
ENST00000683791.1:c.3647G>T
ENST00000684460.1:c.7842G>T
ENST00000684548.1:c.10561G>T	ENSP00000507421.1:p.Glu3521Ter
ENST00000684590.1:c.5008G>T	ENSP00000507376.1:p.Glu1670Ter
ENST00000684656.1:c.7887G>T
ENST00000613296.6:c.10942G>T MANE Select	ENSP00000482968.1:p.Glu3648Ter
ENST00000651057.1:c.1096G>T	ENSP00000498504.1:p.Glu366Ter
ENST00000651434.1:c.2298G>T
ENST00000651750.1:c.330G>T
ENST00000652487.1:c.2039G>T
ENST00000423048.5:c.4433G>T	ENSP00000399833.1:n.4433G>T
ENST00000484298.5:c.10816G>T	ENSP00000478155.1:p.Glu3606Ter
ENST00000613296.4:c.10942G>T	ENSP00000482968.1:p.Glu3648Ter
ENST00000614410.4:c.10942G>T	ENSP00000479094.1:p.Glu3648Ter
ENST00000620466.4:n.4745G>T
NM_015120.4:c.10945G>T , LRG_741t1:c.10945G>T	NP_055935.4:p.Glu3649Ter
NM_001378454.1:c.10942G>T MANE Select	NP_001365383.1:p.Glu3648Ter