Canonical Allele Identifier: CA1941573
Community Standard Title: NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890598T>C , CM000664.2:g.165890598T>C GRCh38
NC_000002.11:g.166747108T>C , CM000664.1:g.166747108T>C GRCh37
NC_000002.10:g.166455354T>C NCBI36
NG_030345.1:g.68241A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3144A>G MANE Select NP_079029.3:p.Lys1048=
ENST00000243344.8:c.3144A>G MANE Select ENSP00000243344.7:p.Lys1048=
NM_024753.4:c.3144A>G NP_079029.3:p.Lys1048=
ENST00000243344.7:c.3144A>G ENSP00000243344.7:p.Lys1048=
ENST00000392695.6:c.44A>G
ENST00000652557.1:c.3144A>G ENSP00000498617.1:p.Lys1048=
ENST00000679356.1:c.3144A>G ENSP00000506245.1:p.Lys1048=
ENST00000679676.1:c.3033A>G ENSP00000505492.1:p.Lys1011=
ENST00000679799.1:c.3144A>G ENSP00000505208.1:p.Lys1048=
ENST00000679840.1:c.3144A>G ENSP00000505248.1:p.Lys1048=
ENST00000679931.1:c.*2186A>G ENSP00000505632.1:n.*2186A>G
ENST00000679967.1:c.3135A>G ENSP00000506607.1:p.Lys1045=
ENST00000680327.1:c.*2186A>G ENSP00000506639.1:n.*2186A>G
ENST00000680657.1:n.3255A>G
ENST00000680690.1:c.*2396A>G ENSP00000506121.1:n.*2396A>G
ENST00000680888.1:c.3144A>G ENSP00000506276.1:p.Lys1048=
ENST00000680925.1:n.1174A>G
ENST00000680947.1:c.*2416A>G ENSP00000506496.1:n.*2416A>G
ENST00000681024.1:c.3144A>G ENSP00000506449.1:p.Lys1048=
ENST00000681083.1:c.*2878A>G ENSP00000506095.1:n.*2878A>G
ENST00000681167.1:n.3018A>G
ENST00000681483.1:c.3104A>G ENSP00000505499.1:p.Lys1035Arg
ENST00000681502.1:c.*6404A>G ENSP00000505644.1:n.*6404A>G
ENST00000681819.1:c.3101A>G ENSP00000505673.1:p.Lys1034Arg
ENST00000681952.1:c.3144A>G ENSP00000506400.1:p.Lys1048=
XM_011511870.1:c.2577A>G XP_011510172.1:p.Lys859=
XM_011511871.1:c.2394A>G XP_011510173.1:p.Lys798=
XM_011511871.3:c.2394A>G XP_011510173.1:p.Lys798=
XM_011511872.1:c.*346A>G XP_011510174.1:n.*346A>G
XM_011511872.2:c.*346A>G XP_011510174.1:n.*346A>G
XM_017004967.1:c.3144A>G XP_016860456.1:p.Lys1048=
XM_017004968.2:c.2490A>G XP_016860457.1:p.Lys830=
XM_017004969.1:c.2145A>G XP_016860458.1:p.Lys715=