Canonical Allele Identifier: CA384639830

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579373A>T (hg19) ; chr12:g.49185590A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185590A>T , CM000674.2:g.49185590A>T	GRCh38
NC_000012.11:g.49579373A>T , CM000674.1:g.49579373A>T	GRCh37
NC_000012.10:g.47865640A>T	NCBI36
NG_008966.1:g.8489T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.776T>A MANE Select	ENSP00000301071.7:p.Leu259Gln
ENST00000547939.6:c.671T>A	ENSP00000450268.2:p.Leu224Gln
ENST00000550767.6:c.671T>A	ENSP00000446637.1:p.Leu224Gln
ENST00000550811.2:n.1809T>A
ENST00000552924.2:c.671T>A	ENSP00000448725.2:p.Leu224Gln
ENST00000679733.1:c.*232T>A	ENSP00000505459.1:n.*232T>A
ENST00000295766.9:c.776T>A	ENSP00000439020.2:p.Leu259Gln
ENST00000301071.11:c.776T>A	ENSP00000301071.7:p.Leu259Gln
ENST00000550767.5:c.671T>A	ENSP00000446637.1:p.Leu224Gln
NM_001270399.1:c.776T>A	NP_001257328.1:p.Leu259Gln
NM_001270400.1:c.671T>A	NP_001257329.1:p.Leu224Gln
NM_006009.3:c.776T>A	NP_006000.2:p.Leu259Gln
NM_006009.4:c.776T>A MANE Select	NP_006000.2:p.Leu259Gln
NM_001270399.2:c.776T>A	NP_001257328.1:p.Leu259Gln
NM_001270400.2:c.671T>A	NP_001257329.1:p.Leu224Gln