Canonical Allele Identifier: CA1941872
Community Standard Title: NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165912536A>G , CM000664.2:g.165912536A>G GRCh38
NC_000002.11:g.166769046A>G , CM000664.1:g.166769046A>G GRCh37
NC_000002.10:g.166477292A>G NCBI36
NG_030345.1:g.46303T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.2300T>C MANE Select NP_079029.3:p.Ile767Thr
ENST00000243344.8:c.2300T>C MANE Select ENSP00000243344.7:p.Ile767Thr
NM_024753.4:c.2300T>C NP_079029.3:p.Ile767Thr
ENST00000243344.7:c.2300T>C ENSP00000243344.7:p.Ile767Thr
ENST00000652557.1:c.2300T>C ENSP00000498617.1:p.Ile767Thr
ENST00000679356.1:c.2300T>C ENSP00000506245.1:p.Ile767Thr
ENST00000679671.1:n.2413T>C
ENST00000679676.1:c.2189T>C ENSP00000505492.1:p.Ile730Thr
ENST00000679799.1:c.2300T>C ENSP00000505208.1:p.Ile767Thr
ENST00000679840.1:c.2300T>C ENSP00000505248.1:p.Ile767Thr
ENST00000679931.1:c.*1342T>C ENSP00000505632.1:n.*1342T>C
ENST00000679967.1:c.2300T>C ENSP00000506607.1:p.Ile767Thr
ENST00000680327.1:c.*1342T>C ENSP00000506639.1:n.*1342T>C
ENST00000680448.1:c.2300T>C ENSP00000505921.1:p.Ile767Thr
ENST00000680657.1:n.2411T>C
ENST00000680690.1:c.*1552T>C ENSP00000506121.1:n.*1552T>C
ENST00000680888.1:c.2300T>C ENSP00000506276.1:p.Ile767Thr
ENST00000680947.1:c.*1572T>C ENSP00000506496.1:n.*1572T>C
ENST00000681024.1:c.2300T>C ENSP00000506449.1:p.Ile767Thr
ENST00000681083.1:c.*2034T>C ENSP00000506095.1:n.*2034T>C
ENST00000681167.1:n.2174T>C
ENST00000681483.1:c.2300T>C ENSP00000505499.1:p.Ile767Thr
ENST00000681502.1:c.*1724T>C ENSP00000505644.1:n.*1724T>C
ENST00000681606.1:c.2300T>C ENSP00000505354.1:p.Ile767Thr
ENST00000681819.1:c.2300T>C ENSP00000505673.1:p.Ile767Thr
ENST00000681952.1:c.2300T>C ENSP00000506400.1:p.Ile767Thr
XM_006712761.1:c.2300T>C XP_006712824.1:p.Ile767Thr
XM_011511870.1:c.1733T>C XP_011510172.1:p.Ile578Thr
XM_011511871.1:c.1550T>C XP_011510173.1:p.Ile517Thr
XM_011511871.3:c.1550T>C XP_011510173.1:p.Ile517Thr
XM_011511872.1:c.2300T>C XP_011510174.1:p.Ile767Thr
XM_011511872.2:c.2300T>C XP_011510174.1:p.Ile767Thr
XM_017004967.1:c.2300T>C XP_016860456.1:p.Ile767Thr
XM_017004968.2:c.1646T>C XP_016860457.1:p.Ile549Thr
XM_017004969.1:c.1301T>C XP_016860458.1:p.Ile434Thr