Canonical Allele Identifier: CA349048051
Community Standard Title: NM_024753.5(TTC21B):c.3164G>C (p.Trp1055Ser)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890578C>G , CM000664.2:g.165890578C>G GRCh38
NC_000002.11:g.166747088C>G , CM000664.1:g.166747088C>G GRCh37
NC_000002.10:g.166455334C>G NCBI36
NG_030345.1:g.68261G>C

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3164G>C MANE Select NP_079029.3:p.Trp1055Ser
ENST00000243344.8:c.3164G>C MANE Select ENSP00000243344.7:p.Trp1055Ser
NM_024753.4:c.3164G>C NP_079029.3:p.Trp1055Ser
ENST00000243344.7:c.3164G>C ENSP00000243344.7:p.Trp1055Ser
ENST00000392695.6:c.64G>C
ENST00000652557.1:c.3164G>C ENSP00000498617.1:p.Trp1055Ser
ENST00000679356.1:c.3164G>C ENSP00000506245.1:p.Trp1055Ser
ENST00000679676.1:c.3053G>C ENSP00000505492.1:p.Trp1018Ser
ENST00000679799.1:c.3164G>C ENSP00000505208.1:p.Trp1055Ser
ENST00000679840.1:c.3164G>C ENSP00000505248.1:p.Trp1055Ser
ENST00000679931.1:c.*2206G>C ENSP00000505632.1:n.*2206G>C
ENST00000679967.1:c.3155G>C ENSP00000506607.1:p.Trp1052Ser
ENST00000680327.1:c.*2206G>C ENSP00000506639.1:n.*2206G>C
ENST00000680657.1:n.3275G>C
ENST00000680690.1:c.*2416G>C ENSP00000506121.1:n.*2416G>C
ENST00000680888.1:c.3164G>C ENSP00000506276.1:p.Trp1055Ser
ENST00000680925.1:n.1194G>C
ENST00000680947.1:c.*2436G>C ENSP00000506496.1:n.*2436G>C
ENST00000681024.1:c.3164G>C ENSP00000506449.1:p.Trp1055Ser
ENST00000681083.1:c.*2898G>C ENSP00000506095.1:n.*2898G>C
ENST00000681167.1:n.3038G>C
ENST00000681483.1:c.3124G>C ENSP00000505499.1:p.Gly1042Arg
ENST00000681502.1:c.*6424G>C ENSP00000505644.1:n.*6424G>C
ENST00000681819.1:c.3121G>C ENSP00000505673.1:p.Gly1041Arg
ENST00000681952.1:c.3164G>C ENSP00000506400.1:p.Trp1055Ser
XM_011511870.1:c.2597G>C XP_011510172.1:p.Trp866Ser
XM_011511871.1:c.2414G>C XP_011510173.1:p.Trp805Ser
XM_011511871.3:c.2414G>C XP_011510173.1:p.Trp805Ser
XM_011511872.1:c.*366G>C XP_011510174.1:n.*366G>C
XM_011511872.2:c.*366G>C XP_011510174.1:n.*366G>C
XM_017004967.1:c.3164G>C XP_016860456.1:p.Trp1055Ser
XM_017004968.2:c.2510G>C XP_016860457.1:p.Trp837Ser
XM_017004969.1:c.2165G>C XP_016860458.1:p.Trp722Ser