Canonical Allele Identifier: CA349048163
Community Standard Title: NM_024753.5(TTC21B):c.3112G>C (p.Glu1038Gln)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890630C>G , CM000664.2:g.165890630C>G GRCh38
NC_000002.11:g.166747140C>G , CM000664.1:g.166747140C>G GRCh37
NC_000002.10:g.166455386C>G NCBI36
NG_030345.1:g.68209G>C

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.3112G>C MANE Select NP_079029.3:p.Glu1038Gln
ENST00000243344.8:c.3112G>C MANE Select ENSP00000243344.7:p.Glu1038Gln
NM_024753.4:c.3112G>C NP_079029.3:p.Glu1038Gln
ENST00000243344.7:c.3112G>C ENSP00000243344.7:p.Glu1038Gln
ENST00000392695.6:c.12G>C
ENST00000652557.1:c.3112G>C ENSP00000498617.1:p.Glu1038Gln
ENST00000679356.1:c.3112G>C ENSP00000506245.1:p.Glu1038Gln
ENST00000679676.1:c.3001G>C ENSP00000505492.1:p.Glu1001Gln
ENST00000679799.1:c.3112G>C ENSP00000505208.1:p.Glu1038Gln
ENST00000679840.1:c.3112G>C ENSP00000505248.1:p.Glu1038Gln
ENST00000679931.1:c.*2154G>C ENSP00000505632.1:n.*2154G>C
ENST00000679967.1:c.3103G>C ENSP00000506607.1:p.Glu1035Gln
ENST00000680327.1:c.*2154G>C ENSP00000506639.1:n.*2154G>C
ENST00000680657.1:n.3223G>C
ENST00000680690.1:c.*2364G>C ENSP00000506121.1:n.*2364G>C
ENST00000680888.1:c.3112G>C ENSP00000506276.1:p.Glu1038Gln
ENST00000680925.1:n.1142G>C
ENST00000680947.1:c.*2384G>C ENSP00000506496.1:n.*2384G>C
ENST00000681024.1:c.3112G>C ENSP00000506449.1:p.Glu1038Gln
ENST00000681083.1:c.*2846G>C ENSP00000506095.1:n.*2846G>C
ENST00000681167.1:n.2986G>C
ENST00000681483.1:c.3072G>C ENSP00000505499.1:p.Glu1024Asp
ENST00000681502.1:c.*6372G>C ENSP00000505644.1:n.*6372G>C
ENST00000681819.1:c.3069G>C ENSP00000505673.1:p.Glu1023Asp
ENST00000681952.1:c.3112G>C ENSP00000506400.1:p.Glu1038Gln
XM_011511870.1:c.2545G>C XP_011510172.1:p.Glu849Gln
XM_011511871.1:c.2362G>C XP_011510173.1:p.Glu788Gln
XM_011511871.3:c.2362G>C XP_011510173.1:p.Glu788Gln
XM_011511872.1:c.*314G>C XP_011510174.1:n.*314G>C
XM_011511872.2:c.*314G>C XP_011510174.1:n.*314G>C
XM_017004967.1:c.3112G>C XP_016860456.1:p.Glu1038Gln
XM_017004968.2:c.2458G>C XP_016860457.1:p.Glu820Gln
XM_017004969.1:c.2113G>C XP_016860458.1:p.Glu705Gln