Canonical Allele Identifier: CA384639114

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 625483
• ClinVar RCV Id: RCV000767428
• dbSNP Id: rs1565627116
• MyVariant Identifiers: chr12:g.49579293G>A (hg19) ; chr12:g.49185510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185510G>A , CM000674.2:g.49185510G>A	GRCh38
NC_000012.11:g.49579293G>A , CM000674.1:g.49579293G>A	GRCh37
NC_000012.10:g.47865560G>A	NCBI36
NG_008966.1:g.8569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.856C>T MANE Select	ENSP00000301071.7:p.Leu286Phe
ENST00000547939.6:c.751C>T	ENSP00000450268.2:p.Leu251Phe
ENST00000550767.6:c.751C>T	ENSP00000446637.1:p.Leu251Phe
ENST00000550811.2:n.1889C>T
ENST00000552924.2:c.751C>T	ENSP00000448725.2:p.Leu251Phe
ENST00000679733.1:c.*312C>T	ENSP00000505459.1:n.*312C>T
ENST00000295766.9:c.856C>T	ENSP00000439020.2:p.Leu286Phe
ENST00000301071.11:c.856C>T	ENSP00000301071.7:p.Leu286Phe
ENST00000550767.5:c.751C>T	ENSP00000446637.1:p.Leu251Phe
NM_001270399.1:c.856C>T	NP_001257328.1:p.Leu286Phe
NM_001270400.1:c.751C>T	NP_001257329.1:p.Leu251Phe
NM_006009.3:c.856C>T	NP_006000.2:p.Leu286Phe
NM_006009.4:c.856C>T MANE Select	NP_006000.2:p.Leu286Phe
NM_001270399.2:c.856C>T	NP_001257328.1:p.Leu286Phe
NM_001270400.2:c.751C>T	NP_001257329.1:p.Leu251Phe