Canonical Allele Identifier: CA384636540

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 2412886
• ClinVar RCV Id: RCV003109901
• MyVariant Identifiers: chr12:g.49579093C>G (hg19) ; chr12:g.49185310C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185310C>G , CM000674.2:g.49185310C>G	GRCh38
NC_000012.11:g.49579093C>G , CM000674.1:g.49579093C>G	GRCh37
NC_000012.10:g.47865360C>G	NCBI36
NG_008966.1:g.8769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1056G>C MANE Select	ENSP00000301071.7:p.Lys352Asn
ENST00000547939.6:c.951G>C	ENSP00000450268.2:p.Lys317Asn
ENST00000550767.6:c.951G>C	ENSP00000446637.1:p.Lys317Asn
ENST00000550811.2:n.2089G>C
ENST00000552924.2:c.951G>C	ENSP00000448725.2:p.Lys317Asn
ENST00000679733.1:c.*512G>C	ENSP00000505459.1:n.*512G>C
ENST00000295766.9:c.1056G>C	ENSP00000439020.2:p.Lys352Asn
ENST00000301071.11:c.1056G>C	ENSP00000301071.7:p.Lys352Asn
ENST00000550767.5:c.951G>C	ENSP00000446637.1:p.Lys317Asn
NM_001270399.1:c.1056G>C	NP_001257328.1:p.Lys352Asn
NM_001270400.1:c.951G>C	NP_001257329.1:p.Lys317Asn
NM_006009.3:c.1056G>C	NP_006000.2:p.Lys352Asn
NM_006009.4:c.1056G>C MANE Select	NP_006000.2:p.Lys352Asn
NM_001270399.2:c.1056G>C	NP_001257328.1:p.Lys352Asn
NM_001270400.2:c.951G>C	NP_001257329.1:p.Lys317Asn