Canonical Allele Identifier: CA349066184
Community Standard Title: NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165929697G>A , CM000664.2:g.165929697G>A GRCh38
NC_000002.11:g.166786207G>A , CM000664.1:g.166786207G>A GRCh37
NC_000002.10:g.166494453G>A NCBI36
NG_030345.1:g.29142C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.1138C>T MANE Select NP_079029.3:p.Gln380Ter
ENST00000243344.8:c.1138C>T MANE Select ENSP00000243344.7:p.Gln380Ter
NM_024753.4:c.1138C>T NP_079029.3:p.Gln380Ter
ENST00000243344.7:c.1138C>T ENSP00000243344.7:p.Gln380Ter
ENST00000464374.5:n.1178C>T
ENST00000652557.1:c.1138C>T ENSP00000498617.1:p.Gln380Ter
ENST00000679356.1:c.1138C>T ENSP00000506245.1:p.Gln380Ter
ENST00000679671.1:n.1251C>T
ENST00000679676.1:c.1027C>T ENSP00000505492.1:p.Gln343Ter
ENST00000679799.1:c.1138C>T ENSP00000505208.1:p.Gln380Ter
ENST00000679840.1:c.1138C>T ENSP00000505248.1:p.Gln380Ter
ENST00000679931.1:c.*180C>T ENSP00000505632.1:n.*180C>T
ENST00000679967.1:c.1138C>T ENSP00000506607.1:p.Gln380Ter
ENST00000680225.1:n.397C>T
ENST00000680327.1:c.*180C>T ENSP00000506639.1:n.*180C>T
ENST00000680448.1:c.1138C>T ENSP00000505921.1:p.Gln380Ter
ENST00000680657.1:n.1249C>T
ENST00000680690.1:c.*390C>T ENSP00000506121.1:n.*390C>T
ENST00000680888.1:c.1138C>T ENSP00000506276.1:p.Gln380Ter
ENST00000680947.1:c.*410C>T ENSP00000506496.1:n.*410C>T
ENST00000681024.1:c.1138C>T ENSP00000506449.1:p.Gln380Ter
ENST00000681083.1:c.*872C>T ENSP00000506095.1:n.*872C>T
ENST00000681167.1:n.1012C>T
ENST00000681483.1:c.1138C>T ENSP00000505499.1:p.Gln380Ter
ENST00000681502.1:c.*562C>T ENSP00000505644.1:n.*562C>T
ENST00000681606.1:c.1138C>T ENSP00000505354.1:p.Gln380Ter
ENST00000681819.1:c.1138C>T ENSP00000505673.1:p.Gln380Ter
ENST00000681952.1:c.1138C>T ENSP00000506400.1:p.Gln380Ter
XM_006712761.1:c.1138C>T XP_006712824.1:p.Gln380Ter
XM_011511870.1:c.571C>T XP_011510172.1:p.Gln191Ter
XM_011511871.1:c.388C>T XP_011510173.1:p.Gln130Ter
XM_011511871.3:c.388C>T XP_011510173.1:p.Gln130Ter
XM_011511872.1:c.1138C>T XP_011510174.1:p.Gln380Ter
XM_011511872.2:c.1138C>T XP_011510174.1:p.Gln380Ter
XM_017004967.1:c.1138C>T XP_016860456.1:p.Gln380Ter
XM_017004968.2:c.484C>T XP_016860457.1:p.Gln162Ter
XM_017004969.1:c.139C>T XP_016860458.1:p.Gln47Ter