Canonical Allele Identifier: CA409467569

Gene: TUBB1

Linked Data

• MyVariant Identifiers: chr20:g.57599225C>T (hg19) ; chr20:g.59024170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59024170C>T , CM000682.2:g.59024170C>T	GRCh38
NC_000020.10:g.57599225C>T , CM000682.1:g.57599225C>T	GRCh37
NC_000020.9:g.57032620C>T	NCBI36
NG_023424.2:g.9917C>T , LRG_581:g.9917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217133.2:c.743C>T MANE Select	ENSP00000217133.1:p.Ala248Val
ENST00000217133.1:c.743C>T	ENSP00000217133.1:p.Ala248Val
NM_030773.3:c.743C>T , LRG_581t1:c.743C>T	NP_110400.1:p.Ala248Val
XM_017028085.1:c.677C>T	XP_016883574.1:p.Ala226Val
NM_030773.4:c.743C>T MANE Select	NP_110400.1:p.Ala248Val