Canonical Allele Identifier: CA16042986
Gene: TUBG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373145
ClinVar RCV Id: RCV000413139
dbSNP Id: rs1057518249
MyVariant Identifiers: chr17:g.40766538C>T (hg19) chr17:g.42614520C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42614520C>T , CM000679.2:g.42614520C>T GRCh38
NC_000017.10:g.40766538C>T , CM000679.1:g.40766538C>T GRCh37
NC_000017.9:g.38020064C>T NCBI36
NG_033886.1:g.10181C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251413.8:c.1021C>T MANE Select ENSP00000251413.2:p.Arg341Trp
ENST00000588056.2:n.1715C>T
ENST00000589688.2:c.*533C>T ENSP00000465582.1:n.*533C>T
ENST00000679484.1:n.2073C>T
ENST00000680617.1:n.2852C>T
ENST00000680672.1:n.1233C>T
ENST00000680678.1:n.1379C>T
ENST00000681114.1:n.2769C>T
ENST00000681413.1:c.1159C>T ENSP00000505664.1:p.Arg387Trp
ENST00000681490.1:n.1462C>T
ENST00000681919.1:n.3052C>T
ENST00000681947.1:n.1201C>T
ENST00000251413.7:c.1021C>T ENSP00000251413.2:p.Arg341Trp
ENST00000589688.1:c.*533C>T ENSP00000465582.1:n.*533C>T
NM_001070.4:c.1021C>T NP_001061.2:p.Arg341Trp
XM_024450904.1:c.1282C>T XP_024306672.1:p.Arg428Trp
NM_001070.5:c.1021C>T MANE Select NP_001061.2:p.Arg341Trp
Search 100 bp 5'
Search 100 bp 3'