Canonical Allele Identifier: CA409467447

Gene: TUBB1

Linked Data

• MyVariant Identifiers: chr20:g.57599167G>T (hg19) ; chr20:g.59024112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59024112G>T , CM000682.2:g.59024112G>T	GRCh38
NC_000020.10:g.57599167G>T , CM000682.1:g.57599167G>T	GRCh37
NC_000020.9:g.57032562G>T	NCBI36
NG_023424.2:g.9859G>T , LRG_581:g.9859G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217133.2:c.685G>T MANE Select	ENSP00000217133.1:p.Val229Leu
ENST00000217133.1:c.685G>T	ENSP00000217133.1:p.Val229Leu
NM_030773.3:c.685G>T , LRG_581t1:c.685G>T	NP_110400.1:p.Val229Leu
XM_017028085.1:c.619G>T	XP_016883574.1:p.Val207Leu
NM_030773.4:c.685G>T MANE Select	NP_110400.1:p.Val229Leu