Canonical Allele Identifier: CA349048417

Gene: TTC21B

Linked Data

• MyVariant Identifiers: chr2:g.166747445G>T (hg19) ; chr2:g.165890935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165890935G>T , CM000664.2:g.165890935G>T	GRCh38
NC_000002.11:g.166747445G>T , CM000664.1:g.166747445G>T	GRCh37
NC_000002.10:g.166455691G>T	NCBI36
NG_030345.1:g.67904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243344.8:c.3004C>A MANE Select	ENSP00000243344.7:p.Leu1002Ile
ENST00000652557.1:c.3004C>A	ENSP00000498617.1:p.Leu1002Ile
ENST00000679356.1:c.3004C>A	ENSP00000506245.1:p.Leu1002Ile
ENST00000679676.1:c.2893C>A	ENSP00000505492.1:p.Leu965Ile
ENST00000679799.1:c.3004C>A	ENSP00000505208.1:p.Leu1002Ile
ENST00000679840.1:c.3004C>A	ENSP00000505248.1:p.Leu1002Ile
ENST00000679931.1:c.*2046C>A	ENSP00000505632.1:n.*2046C>A
ENST00000679967.1:c.2995C>A	ENSP00000506607.1:p.Leu999Ile
ENST00000680327.1:c.*2046C>A	ENSP00000506639.1:n.*2046C>A
ENST00000680657.1:n.3115C>A
ENST00000680690.1:c.*2256C>A	ENSP00000506121.1:n.*2256C>A
ENST00000680888.1:c.3004C>A	ENSP00000506276.1:p.Leu1002Ile
ENST00000680925.1:n.1034C>A
ENST00000680947.1:c.*2276C>A	ENSP00000506496.1:n.*2276C>A
ENST00000681024.1:c.3004C>A	ENSP00000506449.1:p.Leu1002Ile
ENST00000681083.1:c.*2738C>A	ENSP00000506095.1:n.*2738C>A
ENST00000681167.1:n.2878C>A
ENST00000681483.1:c.2964C>A	ENSP00000505499.1:p.Asn988Lys
ENST00000681502.1:c.*6264C>A	ENSP00000505644.1:n.*6264C>A
ENST00000681819.1:c.2961C>A	ENSP00000505673.1:p.Asn987Lys
ENST00000681952.1:c.3004C>A	ENSP00000506400.1:p.Leu1002Ile
ENST00000243344.7:c.3004C>A	ENSP00000243344.7:p.Leu1002Ile
NM_024753.4:c.3004C>A	NP_079029.3:p.Leu1002Ile
XM_011511870.1:c.2437C>A	XP_011510172.1:p.Leu813Ile
XM_011511871.1:c.2254C>A	XP_011510173.1:p.Leu752Ile
XM_011511872.1:c.*206C>A	XP_011510174.1:n.*206C>A
XM_011511871.3:c.2254C>A	XP_011510173.1:p.Leu752Ile
XM_011511872.2:c.*206C>A	XP_011510174.1:n.*206C>A
XM_017004967.1:c.3004C>A	XP_016860456.1:p.Leu1002Ile
XM_017004968.2:c.2350C>A	XP_016860457.1:p.Leu784Ile
XM_017004969.1:c.2005C>A	XP_016860458.1:p.Leu669Ile
NM_024753.5:c.3004C>A MANE Select	NP_079029.3:p.Leu1002Ile