Canonical Allele Identifier: CA1941517

Gene: TTC21B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165888323C>T , CM000664.2:g.165888323C>T	GRCh38
NC_000002.11:g.166744833C>T , CM000664.1:g.166744833C>T	GRCh37
NC_000002.10:g.166453079C>T	NCBI36
NG_030345.1:g.70516G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024753.5:c.3415G>A MANE Select	NP_079029.3:p.Val1139Ile
ENST00000243344.8:c.3415G>A MANE Select	ENSP00000243344.7:p.Val1139Ile
NM_024753.4:c.3415G>A	NP_079029.3:p.Val1139Ile
ENST00000243344.7:c.3415G>A	ENSP00000243344.7:p.Val1139Ile
ENST00000392695.6:c.315G>A
ENST00000652557.1:c.3415G>A	ENSP00000498617.1:p.Val1139Ile
ENST00000679356.1:c.3415G>A	ENSP00000506245.1:p.Val1139Ile
ENST00000679676.1:c.3304G>A	ENSP00000505492.1:p.Val1102Ile
ENST00000679799.1:c.3415G>A	ENSP00000505208.1:p.Val1139Ile
ENST00000679840.1:c.3415G>A	ENSP00000505248.1:p.Val1139Ile
ENST00000679931.1:c.*2457G>A	ENSP00000505632.1:n.*2457G>A
ENST00000679967.1:c.3406G>A	ENSP00000506607.1:p.Val1136Ile
ENST00000680327.1:c.*2457G>A	ENSP00000506639.1:n.*2457G>A
ENST00000680657.1:n.3526G>A
ENST00000680690.1:c.*2667G>A	ENSP00000506121.1:n.*2667G>A
ENST00000680888.1:c.3415G>A	ENSP00000506276.1:p.Val1139Ile
ENST00000680925.1:n.1445G>A
ENST00000680947.1:c.*2687G>A	ENSP00000506496.1:n.*2687G>A
ENST00000681024.1:c.3415G>A	ENSP00000506449.1:p.Val1139Ile
ENST00000681083.1:c.*3149G>A	ENSP00000506095.1:n.*3149G>A
ENST00000681167.1:n.3289G>A
ENST00000681483.1:c.*225G>A	ENSP00000505499.1:n.*225G>A
ENST00000681502.1:c.*6675G>A	ENSP00000505644.1:n.*6675G>A
ENST00000681819.1:c.*225G>A	ENSP00000505673.1:n.*225G>A
ENST00000681952.1:c.3415G>A	ENSP00000506400.1:p.Val1139Ile
XM_011511870.1:c.2848G>A	XP_011510172.1:p.Val950Ile
XM_011511871.1:c.2665G>A	XP_011510173.1:p.Val889Ile
XM_011511871.3:c.2665G>A	XP_011510173.1:p.Val889Ile
XM_011511872.2:c.*617G>A	XP_011510174.1:n.*617G>A
XM_017004967.1:c.3415G>A	XP_016860456.1:p.Val1139Ile
XM_017004968.2:c.2761G>A	XP_016860457.1:p.Val921Ile
XM_017004969.1:c.2416G>A	XP_016860458.1:p.Val806Ile