Canonical Allele Identifier: CA1942068
Community Standard Title: NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165919313G>A , CM000664.2:g.165919313G>A GRCh38
NC_000002.11:g.166775823G>A , CM000664.1:g.166775823G>A GRCh37
NC_000002.10:g.166484069G>A NCBI36
NG_030345.1:g.39526C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.1637C>T MANE Select NP_079029.3:p.Ser546Phe
ENST00000243344.8:c.1637C>T MANE Select ENSP00000243344.7:p.Ser546Phe
NM_024753.4:c.1637C>T NP_079029.3:p.Ser546Phe
ENST00000243344.7:c.1637C>T ENSP00000243344.7:p.Ser546Phe
ENST00000652557.1:c.1637C>T ENSP00000498617.1:p.Ser546Phe
ENST00000679356.1:c.1637C>T ENSP00000506245.1:p.Ser546Phe
ENST00000679671.1:n.1750C>T
ENST00000679676.1:c.1526C>T ENSP00000505492.1:p.Ser509Phe
ENST00000679799.1:c.1637C>T ENSP00000505208.1:p.Ser546Phe
ENST00000679840.1:c.1637C>T ENSP00000505248.1:p.Ser546Phe
ENST00000679931.1:c.*679C>T ENSP00000505632.1:n.*679C>T
ENST00000679967.1:c.1637C>T ENSP00000506607.1:p.Ser546Phe
ENST00000680327.1:c.*679C>T ENSP00000506639.1:n.*679C>T
ENST00000680448.1:c.1637C>T ENSP00000505921.1:p.Ser546Phe
ENST00000680657.1:n.1748C>T
ENST00000680690.1:c.*889C>T ENSP00000506121.1:n.*889C>T
ENST00000680888.1:c.1637C>T ENSP00000506276.1:p.Ser546Phe
ENST00000680947.1:c.*909C>T ENSP00000506496.1:n.*909C>T
ENST00000681024.1:c.1637C>T ENSP00000506449.1:p.Ser546Phe
ENST00000681083.1:c.*1371C>T ENSP00000506095.1:n.*1371C>T
ENST00000681167.1:n.1511C>T
ENST00000681483.1:c.1637C>T ENSP00000505499.1:p.Ser546Phe
ENST00000681502.1:c.*1061C>T ENSP00000505644.1:n.*1061C>T
ENST00000681606.1:c.1637C>T ENSP00000505354.1:p.Ser546Phe
ENST00000681819.1:c.1637C>T ENSP00000505673.1:p.Ser546Phe
ENST00000681952.1:c.1637C>T ENSP00000506400.1:p.Ser546Phe
XM_006712761.1:c.1637C>T XP_006712824.1:p.Ser546Phe
XM_011511870.1:c.1070C>T XP_011510172.1:p.Ser357Phe
XM_011511871.1:c.887C>T XP_011510173.1:p.Ser296Phe
XM_011511871.3:c.887C>T XP_011510173.1:p.Ser296Phe
XM_011511872.1:c.1637C>T XP_011510174.1:p.Ser546Phe
XM_011511872.2:c.1637C>T XP_011510174.1:p.Ser546Phe
XM_017004967.1:c.1637C>T XP_016860456.1:p.Ser546Phe
XM_017004968.2:c.983C>T XP_016860457.1:p.Ser328Phe
XM_017004969.1:c.638C>T XP_016860458.1:p.Ser213Phe