Canonical Allele Identifier: CA349048257
Community Standard Title: NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890863G>A , CM000664.2:g.165890863G>A GRCh38
NC_000002.11:g.166747373G>A , CM000664.1:g.166747373G>A GRCh37
NC_000002.10:g.166455619G>A NCBI36
NG_030345.1:g.67976C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3076C>T MANE Select NP_079029.3:p.Gln1026Ter
ENST00000243344.8:c.3076C>T MANE Select ENSP00000243344.7:p.Gln1026Ter
NM_024753.4:c.3076C>T NP_079029.3:p.Gln1026Ter
ENST00000243344.7:c.3076C>T ENSP00000243344.7:p.Gln1026Ter
ENST00000652557.1:c.3076C>T ENSP00000498617.1:p.Gln1026Ter
ENST00000679356.1:c.3076C>T ENSP00000506245.1:p.Gln1026Ter
ENST00000679676.1:c.2965C>T ENSP00000505492.1:p.Gln989Ter
ENST00000679799.1:c.3076C>T ENSP00000505208.1:p.Gln1026Ter
ENST00000679840.1:c.3076C>T ENSP00000505248.1:p.Gln1026Ter
ENST00000679931.1:c.*2118C>T ENSP00000505632.1:n.*2118C>T
ENST00000679967.1:c.3067C>T ENSP00000506607.1:p.Gln1023Ter
ENST00000680327.1:c.*2118C>T ENSP00000506639.1:n.*2118C>T
ENST00000680657.1:n.3187C>T
ENST00000680690.1:c.*2328C>T ENSP00000506121.1:n.*2328C>T
ENST00000680888.1:c.3076C>T ENSP00000506276.1:p.Gln1026Ter
ENST00000680925.1:n.1106C>T
ENST00000680947.1:c.*2348C>T ENSP00000506496.1:n.*2348C>T
ENST00000681024.1:c.3076C>T ENSP00000506449.1:p.Gln1026Ter
ENST00000681083.1:c.*2810C>T ENSP00000506095.1:n.*2810C>T
ENST00000681167.1:n.2950C>T
ENST00000681483.1:c.3036C>T ENSP00000505499.1:p.Phe1012=
ENST00000681502.1:c.*6336C>T ENSP00000505644.1:n.*6336C>T
ENST00000681819.1:c.3033C>T ENSP00000505673.1:p.Phe1011=
ENST00000681952.1:c.3076C>T ENSP00000506400.1:p.Gln1026Ter
XM_011511870.1:c.2509C>T XP_011510172.1:p.Gln837Ter
XM_011511871.1:c.2326C>T XP_011510173.1:p.Gln776Ter
XM_011511871.3:c.2326C>T XP_011510173.1:p.Gln776Ter
XM_011511872.1:c.*278C>T XP_011510174.1:n.*278C>T
XM_011511872.2:c.*278C>T XP_011510174.1:n.*278C>T
XM_017004967.1:c.3076C>T XP_016860456.1:p.Gln1026Ter
XM_017004968.2:c.2422C>T XP_016860457.1:p.Gln808Ter
XM_017004969.1:c.2077C>T XP_016860458.1:p.Gln693Ter