Canonical Allele Identifier: CA1942040
Community Standard Title: NM_024753.5(TTC21B):c.1677G>C (p.Val559=)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165917479C>G , CM000664.2:g.165917479C>G GRCh38
NC_000002.11:g.166773989C>G , CM000664.1:g.166773989C>G GRCh37
NC_000002.10:g.166482235C>G NCBI36
NG_030345.1:g.41360G>C

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.1677G>C MANE Select NP_079029.3:p.Val559=
ENST00000243344.8:c.1677G>C MANE Select ENSP00000243344.7:p.Val559=
NM_024753.4:c.1677G>C NP_079029.3:p.Val559=
ENST00000243344.7:c.1677G>C ENSP00000243344.7:p.Val559=
ENST00000652557.1:c.1677G>C ENSP00000498617.1:p.Val559=
ENST00000679356.1:c.1677G>C ENSP00000506245.1:p.Val559=
ENST00000679671.1:n.1790G>C
ENST00000679676.1:c.1566G>C ENSP00000505492.1:p.Val522=
ENST00000679799.1:c.1677G>C ENSP00000505208.1:p.Val559=
ENST00000679840.1:c.1677G>C ENSP00000505248.1:p.Val559=
ENST00000679931.1:c.*719G>C ENSP00000505632.1:n.*719G>C
ENST00000679967.1:c.1677G>C ENSP00000506607.1:p.Val559=
ENST00000680327.1:c.*719G>C ENSP00000506639.1:n.*719G>C
ENST00000680448.1:c.1677G>C ENSP00000505921.1:p.Val559=
ENST00000680657.1:n.1788G>C
ENST00000680690.1:c.*929G>C ENSP00000506121.1:n.*929G>C
ENST00000680888.1:c.1677G>C ENSP00000506276.1:p.Val559=
ENST00000680947.1:c.*949G>C ENSP00000506496.1:n.*949G>C
ENST00000681024.1:c.1677G>C ENSP00000506449.1:p.Val559=
ENST00000681083.1:c.*1411G>C ENSP00000506095.1:n.*1411G>C
ENST00000681167.1:n.1551G>C
ENST00000681483.1:c.1677G>C ENSP00000505499.1:p.Val559=
ENST00000681502.1:c.*1101G>C ENSP00000505644.1:n.*1101G>C
ENST00000681606.1:c.1677G>C ENSP00000505354.1:p.Val559=
ENST00000681819.1:c.1677G>C ENSP00000505673.1:p.Val559=
ENST00000681952.1:c.1677G>C ENSP00000506400.1:p.Val559=
XM_006712761.1:c.1677G>C XP_006712824.1:p.Val559=
XM_011511870.1:c.1110G>C XP_011510172.1:p.Val370=
XM_011511871.1:c.927G>C XP_011510173.1:p.Val309=
XM_011511871.3:c.927G>C XP_011510173.1:p.Val309=
XM_011511872.1:c.1677G>C XP_011510174.1:p.Val559=
XM_011511872.2:c.1677G>C XP_011510174.1:p.Val559=
XM_017004967.1:c.1677G>C XP_016860456.1:p.Val559=
XM_017004968.2:c.1023G>C XP_016860457.1:p.Val341=
XM_017004969.1:c.678G>C XP_016860458.1:p.Val226=