Canonical Allele Identifier: CA290798704
Community Standard Title: NM_001070.5(TUBG1):c.330+115C>G
Gene: TUBG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42610705C>G , CM000679.2:g.42610705C>G GRCh38
NC_000017.10:g.40762723C>G , CM000679.1:g.40762723C>G GRCh37
NC_000017.9:g.38016249C>G NCBI36
NG_033886.1:g.6366C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001070.5:c.330+115C>G MANE Select NP_001061.2:n.330+115C>G
ENST00000251413.8:c.330+115C>G MANE Select ENSP00000251413.2:n.330+115C>G
NM_001070.4:c.330+115C>G NP_001061.2:n.330+115C>G
ENST00000251413.7:c.330+115C>G ENSP00000251413.2:n.330+115C>G
ENST00000588056.1:n.382+115C>G
ENST00000588056.2:n.397+115C>G
ENST00000589613.1:n.354C>G
ENST00000589688.1:c.330+115C>G ENSP00000465582.1:n.330+115C>G
ENST00000589688.2:c.330+115C>G ENSP00000465582.1:n.330+115C>G
ENST00000591509.5:c.369+76C>G ENSP00000464867.1:n.369+76C>G
ENST00000680617.1:n.448C>G
ENST00000680672.1:n.427+115C>G
ENST00000680678.1:n.427+115C>G
ENST00000681114.1:n.448C>G
ENST00000681413.1:c.330+115C>G ENSP00000505664.1:n.330+115C>G
ENST00000681490.1:n.427+115C>G
ENST00000681919.1:n.448C>G
ENST00000681947.1:n.427+115C>G
XM_024450904.1:c.330+115C>G XP_024306672.1:n.330+115C>G