Canonical Allele Identifier: CA213162
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 7075
ClinVar RCV Id: RCV000007491 RCV000767468
dbSNP Id: rs137853048
MyVariant Identifiers: chr12:g.49578959A>G (hg19) chr12:g.49185176A>G (hg38)
PubMed: PMID:18728072
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185176A>G , CM000674.2:g.49185176A>G GRCh38
NC_000012.11:g.49578959A>G , CM000674.1:g.49578959A>G GRCh37
NC_000012.10:g.47865226A>G NCBI36
NG_008966.1:g.8903T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.1190T>C MANE Select ENSP00000301071.7:p.Leu397Pro
ENST00000547939.6:c.1085T>C ENSP00000450268.2:p.Leu362Pro
ENST00000550767.6:c.1085T>C ENSP00000446637.1:p.Leu362Pro
ENST00000550811.2:n.2223T>C
ENST00000552924.2:c.1085T>C ENSP00000448725.2:p.Leu362Pro
ENST00000679733.1:c.*646T>C ENSP00000505459.1:n.*646T>C
ENST00000295766.9:c.1190T>C ENSP00000439020.2:p.Leu397Pro
ENST00000301071.11:c.1190T>C ENSP00000301071.7:p.Leu397Pro
ENST00000550767.5:c.1085T>C ENSP00000446637.1:p.Leu362Pro
NM_001270399.1:c.1190T>C NP_001257328.1:p.Leu397Pro
NM_001270400.1:c.1085T>C NP_001257329.1:p.Leu362Pro
NM_006009.3:c.1190T>C NP_006000.2:p.Leu397Pro
NM_006009.4:c.1190T>C MANE Select NP_006000.2:p.Leu397Pro
NM_001270399.2:c.1190T>C NP_001257328.1:p.Leu397Pro
NM_001270400.2:c.1085T>C NP_001257329.1:p.Leu362Pro
Search 100 bp 5'
Search 100 bp 3'