Canonical Allele Identifier: CA349050276
Community Standard Title: NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165899820G>A , CM000664.2:g.165899820G>A GRCh38
NC_000002.11:g.166756330G>A , CM000664.1:g.166756330G>A GRCh37
NC_000002.10:g.166464576G>A NCBI36
NG_030345.1:g.59019C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.2818C>T MANE Select NP_079029.3:p.Gln940Ter
ENST00000243344.8:c.2818C>T MANE Select ENSP00000243344.7:p.Gln940Ter
NM_024753.4:c.2818C>T NP_079029.3:p.Gln940Ter
ENST00000243344.7:c.2818C>T ENSP00000243344.7:p.Gln940Ter
ENST00000484129.1:n.293C>T
ENST00000652557.1:c.2818C>T ENSP00000498617.1:p.Gln940Ter
ENST00000679356.1:c.2818C>T ENSP00000506245.1:p.Gln940Ter
ENST00000679676.1:c.2707C>T ENSP00000505492.1:p.Gln903Ter
ENST00000679799.1:c.2818C>T ENSP00000505208.1:p.Gln940Ter
ENST00000679840.1:c.2818C>T ENSP00000505248.1:p.Gln940Ter
ENST00000679931.1:c.*1860C>T ENSP00000505632.1:n.*1860C>T
ENST00000679967.1:c.2818C>T ENSP00000506607.1:p.Gln940Ter
ENST00000680327.1:c.*1860C>T ENSP00000506639.1:n.*1860C>T
ENST00000680448.1:c.2818C>T ENSP00000505921.1:p.Gln940Ter
ENST00000680657.1:n.2929C>T
ENST00000680690.1:c.*2070C>T ENSP00000506121.1:n.*2070C>T
ENST00000680888.1:c.2818C>T ENSP00000506276.1:p.Gln940Ter
ENST00000680925.1:n.848C>T
ENST00000680947.1:c.*2090C>T ENSP00000506496.1:n.*2090C>T
ENST00000681024.1:c.2818C>T ENSP00000506449.1:p.Gln940Ter
ENST00000681083.1:c.*2552C>T ENSP00000506095.1:n.*2552C>T
ENST00000681167.1:n.2692C>T
ENST00000681483.1:c.2818C>T ENSP00000505499.1:p.Gln940Ter
ENST00000681502.1:c.*2242C>T ENSP00000505644.1:n.*2242C>T
ENST00000681606.1:c.2818C>T ENSP00000505354.1:p.Gln940Ter
ENST00000681819.1:c.2818C>T ENSP00000505673.1:p.Gln940Ter
ENST00000681952.1:c.2818C>T ENSP00000506400.1:p.Gln940Ter
XM_006712761.1:c.2818C>T XP_006712824.1:p.Gln940Ter
XM_011511870.1:c.2251C>T XP_011510172.1:p.Gln751Ter
XM_011511871.1:c.2068C>T XP_011510173.1:p.Gln690Ter
XM_011511871.3:c.2068C>T XP_011510173.1:p.Gln690Ter
XM_011511872.1:c.*20C>T XP_011510174.1:n.*20C>T
XM_011511872.2:c.*20C>T XP_011510174.1:n.*20C>T
XM_017004967.1:c.2818C>T XP_016860456.1:p.Gln940Ter
XM_017004968.2:c.2164C>T XP_016860457.1:p.Gln722Ter
XM_017004969.1:c.1819C>T XP_016860458.1:p.Gln607Ter