Canonical Allele Identifier: CA1942035
Community Standard Title: NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165917441G>T , CM000664.2:g.165917441G>T GRCh38
NC_000002.11:g.166773951G>T , CM000664.1:g.166773951G>T GRCh37
NC_000002.10:g.166482197G>T NCBI36
NG_030345.1:g.41398C>A

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.1715C>A MANE Select NP_079029.3:p.Ser572Ter
ENST00000243344.8:c.1715C>A MANE Select ENSP00000243344.7:p.Ser572Ter
NM_024753.4:c.1715C>A NP_079029.3:p.Ser572Ter
ENST00000243344.7:c.1715C>A ENSP00000243344.7:p.Ser572Ter
ENST00000652557.1:c.1715C>A ENSP00000498617.1:p.Ser572Ter
ENST00000679356.1:c.1715C>A ENSP00000506245.1:p.Ser572Ter
ENST00000679671.1:n.1828C>A
ENST00000679676.1:c.1604C>A ENSP00000505492.1:p.Ser535Ter
ENST00000679799.1:c.1715C>A ENSP00000505208.1:p.Ser572Ter
ENST00000679840.1:c.1715C>A ENSP00000505248.1:p.Ser572Ter
ENST00000679931.1:c.*757C>A ENSP00000505632.1:n.*757C>A
ENST00000679967.1:c.1715C>A ENSP00000506607.1:p.Ser572Ter
ENST00000680327.1:c.*757C>A ENSP00000506639.1:n.*757C>A
ENST00000680448.1:c.1715C>A ENSP00000505921.1:p.Ser572Ter
ENST00000680657.1:n.1826C>A
ENST00000680690.1:c.*967C>A ENSP00000506121.1:n.*967C>A
ENST00000680888.1:c.1715C>A ENSP00000506276.1:p.Ser572Ter
ENST00000680947.1:c.*987C>A ENSP00000506496.1:n.*987C>A
ENST00000681024.1:c.1715C>A ENSP00000506449.1:p.Ser572Ter
ENST00000681083.1:c.*1449C>A ENSP00000506095.1:n.*1449C>A
ENST00000681167.1:n.1589C>A
ENST00000681483.1:c.1715C>A ENSP00000505499.1:p.Ser572Ter
ENST00000681502.1:c.*1139C>A ENSP00000505644.1:n.*1139C>A
ENST00000681606.1:c.1715C>A ENSP00000505354.1:p.Ser572Ter
ENST00000681819.1:c.1715C>A ENSP00000505673.1:p.Ser572Ter
ENST00000681952.1:c.1715C>A ENSP00000506400.1:p.Ser572Ter
XM_006712761.1:c.1715C>A XP_006712824.1:p.Ser572Ter
XM_011511870.1:c.1148C>A XP_011510172.1:p.Ser383Ter
XM_011511871.1:c.965C>A XP_011510173.1:p.Ser322Ter
XM_011511871.3:c.965C>A XP_011510173.1:p.Ser322Ter
XM_011511872.1:c.1715C>A XP_011510174.1:p.Ser572Ter
XM_011511872.2:c.1715C>A XP_011510174.1:p.Ser572Ter
XM_017004967.1:c.1715C>A XP_016860456.1:p.Ser572Ter
XM_017004968.2:c.1061C>A XP_016860457.1:p.Ser354Ter
XM_017004969.1:c.716C>A XP_016860458.1:p.Ser239Ter