Canonical Allele Identifier: CA1941619
Community Standard Title: NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890936T>G , CM000664.2:g.165890936T>G GRCh38
NC_000002.11:g.166747446T>G , CM000664.1:g.166747446T>G GRCh37
NC_000002.10:g.166455692T>G NCBI36
NG_030345.1:g.67903A>C

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3003A>C MANE Select NP_079029.3:p.Lys1001Asn
ENST00000243344.8:c.3003A>C MANE Select ENSP00000243344.7:p.Lys1001Asn
NM_024753.4:c.3003A>C NP_079029.3:p.Lys1001Asn
ENST00000243344.7:c.3003A>C ENSP00000243344.7:p.Lys1001Asn
ENST00000652557.1:c.3003A>C ENSP00000498617.1:p.Lys1001Asn
ENST00000679356.1:c.3003A>C ENSP00000506245.1:p.Lys1001Asn
ENST00000679676.1:c.2892A>C ENSP00000505492.1:p.Lys964Asn
ENST00000679799.1:c.3003A>C ENSP00000505208.1:p.Lys1001Asn
ENST00000679840.1:c.3003A>C ENSP00000505248.1:p.Lys1001Asn
ENST00000679931.1:c.*2045A>C ENSP00000505632.1:n.*2045A>C
ENST00000679967.1:c.2994A>C ENSP00000506607.1:p.Lys998Asn
ENST00000680327.1:c.*2045A>C ENSP00000506639.1:n.*2045A>C
ENST00000680657.1:n.3114A>C
ENST00000680690.1:c.*2255A>C ENSP00000506121.1:n.*2255A>C
ENST00000680888.1:c.3003A>C ENSP00000506276.1:p.Lys1001Asn
ENST00000680925.1:n.1033A>C
ENST00000680947.1:c.*2275A>C ENSP00000506496.1:n.*2275A>C
ENST00000681024.1:c.3003A>C ENSP00000506449.1:p.Lys1001Asn
ENST00000681083.1:c.*2737A>C ENSP00000506095.1:n.*2737A>C
ENST00000681167.1:n.2877A>C
ENST00000681483.1:c.2963A>C ENSP00000505499.1:p.Asn988Thr
ENST00000681502.1:c.*6263A>C ENSP00000505644.1:n.*6263A>C
ENST00000681819.1:c.2960A>C ENSP00000505673.1:p.Asn987Thr
ENST00000681952.1:c.3003A>C ENSP00000506400.1:p.Lys1001Asn
XM_011511870.1:c.2436A>C XP_011510172.1:p.Lys812Asn
XM_011511871.1:c.2253A>C XP_011510173.1:p.Lys751Asn
XM_011511871.3:c.2253A>C XP_011510173.1:p.Lys751Asn
XM_011511872.1:c.*205A>C XP_011510174.1:n.*205A>C
XM_011511872.2:c.*205A>C XP_011510174.1:n.*205A>C
XM_017004967.1:c.3003A>C XP_016860456.1:p.Lys1001Asn
XM_017004968.2:c.2349A>C XP_016860457.1:p.Lys783Asn
XM_017004969.1:c.2004A>C XP_016860458.1:p.Lys668Asn