Canonical Allele Identifier: CA1941605
Community Standard Title: NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890896G>A , CM000664.2:g.165890896G>A GRCh38
NC_000002.11:g.166747406G>A , CM000664.1:g.166747406G>A GRCh37
NC_000002.10:g.166455652G>A NCBI36
NG_030345.1:g.67943C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3043C>T MANE Select NP_079029.3:p.Arg1015Cys
ENST00000243344.8:c.3043C>T MANE Select ENSP00000243344.7:p.Arg1015Cys
NM_024753.4:c.3043C>T NP_079029.3:p.Arg1015Cys
ENST00000243344.7:c.3043C>T ENSP00000243344.7:p.Arg1015Cys
ENST00000652557.1:c.3043C>T ENSP00000498617.1:p.Arg1015Cys
ENST00000679356.1:c.3043C>T ENSP00000506245.1:p.Arg1015Cys
ENST00000679676.1:c.2932C>T ENSP00000505492.1:p.Arg978Cys
ENST00000679799.1:c.3043C>T ENSP00000505208.1:p.Arg1015Cys
ENST00000679840.1:c.3043C>T ENSP00000505248.1:p.Arg1015Cys
ENST00000679931.1:c.*2085C>T ENSP00000505632.1:n.*2085C>T
ENST00000679967.1:c.3034C>T ENSP00000506607.1:p.Arg1012Cys
ENST00000680327.1:c.*2085C>T ENSP00000506639.1:n.*2085C>T
ENST00000680657.1:n.3154C>T
ENST00000680690.1:c.*2295C>T ENSP00000506121.1:n.*2295C>T
ENST00000680888.1:c.3043C>T ENSP00000506276.1:p.Arg1015Cys
ENST00000680925.1:n.1073C>T
ENST00000680947.1:c.*2315C>T ENSP00000506496.1:n.*2315C>T
ENST00000681024.1:c.3043C>T ENSP00000506449.1:p.Arg1015Cys
ENST00000681083.1:c.*2777C>T ENSP00000506095.1:n.*2777C>T
ENST00000681167.1:n.2917C>T
ENST00000681483.1:c.3003C>T ENSP00000505499.1:p.Asn1001=
ENST00000681502.1:c.*6303C>T ENSP00000505644.1:n.*6303C>T
ENST00000681819.1:c.3000C>T ENSP00000505673.1:p.Asn1000=
ENST00000681952.1:c.3043C>T ENSP00000506400.1:p.Arg1015Cys
XM_011511870.1:c.2476C>T XP_011510172.1:p.Arg826Cys
XM_011511871.1:c.2293C>T XP_011510173.1:p.Arg765Cys
XM_011511871.3:c.2293C>T XP_011510173.1:p.Arg765Cys
XM_011511872.1:c.*245C>T XP_011510174.1:n.*245C>T
XM_011511872.2:c.*245C>T XP_011510174.1:n.*245C>T
XM_017004967.1:c.3043C>T XP_016860456.1:p.Arg1015Cys
XM_017004968.2:c.2389C>T XP_016860457.1:p.Arg797Cys
XM_017004969.1:c.2044C>T XP_016860458.1:p.Arg682Cys