Canonical Allele Identifier: CA1942086
Community Standard Title: NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165919404G>A , CM000664.2:g.165919404G>A GRCh38
NC_000002.11:g.166775914G>A , CM000664.1:g.166775914G>A GRCh37
NC_000002.10:g.166484160G>A NCBI36
NG_030345.1:g.39435C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.1546C>T MANE Select NP_079029.3:p.Gln516Ter
ENST00000243344.8:c.1546C>T MANE Select ENSP00000243344.7:p.Gln516Ter
NM_024753.4:c.1546C>T NP_079029.3:p.Gln516Ter
ENST00000243344.7:c.1546C>T ENSP00000243344.7:p.Gln516Ter
ENST00000652557.1:c.1546C>T ENSP00000498617.1:p.Gln516Ter
ENST00000679356.1:c.1546C>T ENSP00000506245.1:p.Gln516Ter
ENST00000679671.1:n.1659C>T
ENST00000679676.1:c.1435C>T ENSP00000505492.1:p.Gln479Ter
ENST00000679799.1:c.1546C>T ENSP00000505208.1:p.Gln516Ter
ENST00000679840.1:c.1546C>T ENSP00000505248.1:p.Gln516Ter
ENST00000679931.1:c.*588C>T ENSP00000505632.1:n.*588C>T
ENST00000679967.1:c.1546C>T ENSP00000506607.1:p.Gln516Ter
ENST00000680327.1:c.*588C>T ENSP00000506639.1:n.*588C>T
ENST00000680448.1:c.1546C>T ENSP00000505921.1:p.Gln516Ter
ENST00000680657.1:n.1657C>T
ENST00000680690.1:c.*798C>T ENSP00000506121.1:n.*798C>T
ENST00000680888.1:c.1546C>T ENSP00000506276.1:p.Gln516Ter
ENST00000680947.1:c.*818C>T ENSP00000506496.1:n.*818C>T
ENST00000681024.1:c.1546C>T ENSP00000506449.1:p.Gln516Ter
ENST00000681083.1:c.*1280C>T ENSP00000506095.1:n.*1280C>T
ENST00000681167.1:n.1420C>T
ENST00000681483.1:c.1546C>T ENSP00000505499.1:p.Gln516Ter
ENST00000681502.1:c.*970C>T ENSP00000505644.1:n.*970C>T
ENST00000681606.1:c.1546C>T ENSP00000505354.1:p.Gln516Ter
ENST00000681819.1:c.1546C>T ENSP00000505673.1:p.Gln516Ter
ENST00000681952.1:c.1546C>T ENSP00000506400.1:p.Gln516Ter
XM_006712761.1:c.1546C>T XP_006712824.1:p.Gln516Ter
XM_011511870.1:c.979C>T XP_011510172.1:p.Gln327Ter
XM_011511871.1:c.796C>T XP_011510173.1:p.Gln266Ter
XM_011511871.3:c.796C>T XP_011510173.1:p.Gln266Ter
XM_011511872.1:c.1546C>T XP_011510174.1:p.Gln516Ter
XM_011511872.2:c.1546C>T XP_011510174.1:p.Gln516Ter
XM_017004967.1:c.1546C>T XP_016860456.1:p.Gln516Ter
XM_017004968.2:c.892C>T XP_016860457.1:p.Gln298Ter
XM_017004969.1:c.547C>T XP_016860458.1:p.Gln183Ter