Canonical Allele Identifier: CA1941577
Community Standard Title: NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890612G>A , CM000664.2:g.165890612G>A GRCh38
NC_000002.11:g.166747122G>A , CM000664.1:g.166747122G>A GRCh37
NC_000002.10:g.166455368G>A NCBI36
NG_030345.1:g.68227C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3130C>T MANE Select NP_079029.3:p.Arg1044Ter
ENST00000243344.8:c.3130C>T MANE Select ENSP00000243344.7:p.Arg1044Ter
NM_024753.4:c.3130C>T NP_079029.3:p.Arg1044Ter
ENST00000243344.7:c.3130C>T ENSP00000243344.7:p.Arg1044Ter
ENST00000392695.6:c.30C>T
ENST00000652557.1:c.3130C>T ENSP00000498617.1:p.Arg1044Ter
ENST00000679356.1:c.3130C>T ENSP00000506245.1:p.Arg1044Ter
ENST00000679676.1:c.3019C>T ENSP00000505492.1:p.Arg1007Ter
ENST00000679799.1:c.3130C>T ENSP00000505208.1:p.Arg1044Ter
ENST00000679840.1:c.3130C>T ENSP00000505248.1:p.Arg1044Ter
ENST00000679931.1:c.*2172C>T ENSP00000505632.1:n.*2172C>T
ENST00000679967.1:c.3121C>T ENSP00000506607.1:p.Arg1041Ter
ENST00000680327.1:c.*2172C>T ENSP00000506639.1:n.*2172C>T
ENST00000680657.1:n.3241C>T
ENST00000680690.1:c.*2382C>T ENSP00000506121.1:n.*2382C>T
ENST00000680888.1:c.3130C>T ENSP00000506276.1:p.Arg1044Ter
ENST00000680925.1:n.1160C>T
ENST00000680947.1:c.*2402C>T ENSP00000506496.1:n.*2402C>T
ENST00000681024.1:c.3130C>T ENSP00000506449.1:p.Arg1044Ter
ENST00000681083.1:c.*2864C>T ENSP00000506095.1:n.*2864C>T
ENST00000681167.1:n.3004C>T
ENST00000681483.1:c.3090C>T ENSP00000505499.1:p.Phe1030=
ENST00000681502.1:c.*6390C>T ENSP00000505644.1:n.*6390C>T
ENST00000681819.1:c.3087C>T ENSP00000505673.1:p.Phe1029=
ENST00000681952.1:c.3130C>T ENSP00000506400.1:p.Arg1044Ter
XM_011511870.1:c.2563C>T XP_011510172.1:p.Arg855Ter
XM_011511871.1:c.2380C>T XP_011510173.1:p.Arg794Ter
XM_011511871.3:c.2380C>T XP_011510173.1:p.Arg794Ter
XM_011511872.1:c.*332C>T XP_011510174.1:n.*332C>T
XM_011511872.2:c.*332C>T XP_011510174.1:n.*332C>T
XM_017004967.1:c.3130C>T XP_016860456.1:p.Arg1044Ter
XM_017004968.2:c.2476C>T XP_016860457.1:p.Arg826Ter
XM_017004969.1:c.2131C>T XP_016860458.1:p.Arg711Ter