Canonical Allele Identifier: CA349048418
Community Standard Title: NM_024753.5(TTC21B):c.3003A>T (p.Lys1001Asn)
Gene: TTC21B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3003A>T MANE Select NP_079029.3:p.Lys1001Asn
ENST00000243344.8:c.3003A>T MANE Select ENSP00000243344.7:p.Lys1001Asn
NM_024753.4:c.3003A>T NP_079029.3:p.Lys1001Asn
ENST00000243344.7:c.3003A>T ENSP00000243344.7:p.Lys1001Asn
ENST00000652557.1:c.3003A>T ENSP00000498617.1:p.Lys1001Asn
ENST00000679356.1:c.3003A>T ENSP00000506245.1:p.Lys1001Asn
ENST00000679676.1:c.2892A>T ENSP00000505492.1:p.Lys964Asn
ENST00000679799.1:c.3003A>T ENSP00000505208.1:p.Lys1001Asn
ENST00000679840.1:c.3003A>T ENSP00000505248.1:p.Lys1001Asn
ENST00000679931.1:c.*2045A>T ENSP00000505632.1:n.*2045A>T
ENST00000679967.1:c.2994A>T ENSP00000506607.1:p.Lys998Asn
ENST00000680327.1:c.*2045A>T ENSP00000506639.1:n.*2045A>T
ENST00000680657.1:n.3114A>T
ENST00000680690.1:c.*2255A>T ENSP00000506121.1:n.*2255A>T
ENST00000680888.1:c.3003A>T ENSP00000506276.1:p.Lys1001Asn
ENST00000680925.1:n.1033A>T
ENST00000680947.1:c.*2275A>T ENSP00000506496.1:n.*2275A>T
ENST00000681024.1:c.3003A>T ENSP00000506449.1:p.Lys1001Asn
ENST00000681083.1:c.*2737A>T ENSP00000506095.1:n.*2737A>T
ENST00000681167.1:n.2877A>T
ENST00000681483.1:c.2963A>T ENSP00000505499.1:p.Asn988Ile
ENST00000681502.1:c.*6263A>T ENSP00000505644.1:n.*6263A>T
ENST00000681819.1:c.2960A>T ENSP00000505673.1:p.Asn987Ile
ENST00000681952.1:c.3003A>T ENSP00000506400.1:p.Lys1001Asn
XM_011511870.1:c.2436A>T XP_011510172.1:p.Lys812Asn
XM_011511871.1:c.2253A>T XP_011510173.1:p.Lys751Asn
XM_011511871.3:c.2253A>T XP_011510173.1:p.Lys751Asn
XM_011511872.1:c.*205A>T XP_011510174.1:n.*205A>T
XM_011511872.2:c.*205A>T XP_011510174.1:n.*205A>T
XM_017004967.1:c.3003A>T XP_016860456.1:p.Lys1001Asn
XM_017004968.2:c.2349A>T XP_016860457.1:p.Lys783Asn
XM_017004969.1:c.2004A>T XP_016860458.1:p.Lys668Asn