Canonical Allele Identifier: CA1941682
Community Standard Title: NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165899780G>A , CM000664.2:g.165899780G>A GRCh38
NC_000002.11:g.166756290G>A , CM000664.1:g.166756290G>A GRCh37
NC_000002.10:g.166464536G>A NCBI36
NG_030345.1:g.59059C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.2858C>T MANE Select NP_079029.3:p.Ala953Val
ENST00000243344.8:c.2858C>T MANE Select ENSP00000243344.7:p.Ala953Val
NM_024753.4:c.2858C>T NP_079029.3:p.Ala953Val
ENST00000243344.7:c.2858C>T ENSP00000243344.7:p.Ala953Val
ENST00000484129.1:n.333C>T
ENST00000652557.1:c.2858C>T ENSP00000498617.1:p.Ala953Val
ENST00000679356.1:c.2858C>T ENSP00000506245.1:p.Ala953Val
ENST00000679676.1:c.2747C>T ENSP00000505492.1:p.Ala916Val
ENST00000679799.1:c.2858C>T ENSP00000505208.1:p.Ala953Val
ENST00000679840.1:c.2858C>T ENSP00000505248.1:p.Ala953Val
ENST00000679931.1:c.*1900C>T ENSP00000505632.1:n.*1900C>T
ENST00000679967.1:c.2858C>T ENSP00000506607.1:p.Ala953Val
ENST00000680327.1:c.*1900C>T ENSP00000506639.1:n.*1900C>T
ENST00000680448.1:c.2858C>T ENSP00000505921.1:p.Ala953Val
ENST00000680657.1:n.2969C>T
ENST00000680690.1:c.*2110C>T ENSP00000506121.1:n.*2110C>T
ENST00000680888.1:c.2858C>T ENSP00000506276.1:p.Ala953Val
ENST00000680925.1:n.888C>T
ENST00000680947.1:c.*2130C>T ENSP00000506496.1:n.*2130C>T
ENST00000681024.1:c.2858C>T ENSP00000506449.1:p.Ala953Val
ENST00000681083.1:c.*2592C>T ENSP00000506095.1:n.*2592C>T
ENST00000681167.1:n.2732C>T
ENST00000681483.1:c.2858C>T ENSP00000505499.1:p.Ala953Val
ENST00000681502.1:c.*2282C>T ENSP00000505644.1:n.*2282C>T
ENST00000681606.1:c.2858C>T ENSP00000505354.1:p.Ala953Val
ENST00000681819.1:c.2858C>T ENSP00000505673.1:p.Ala953Val
ENST00000681952.1:c.2858C>T ENSP00000506400.1:p.Ala953Val
XM_006712761.1:c.2858C>T XP_006712824.1:p.Ala953Val
XM_011511870.1:c.2291C>T XP_011510172.1:p.Ala764Val
XM_011511871.1:c.2108C>T XP_011510173.1:p.Ala703Val
XM_011511871.3:c.2108C>T XP_011510173.1:p.Ala703Val
XM_011511872.1:c.*60C>T XP_011510174.1:n.*60C>T
XM_011511872.2:c.*60C>T XP_011510174.1:n.*60C>T
XM_017004967.1:c.2858C>T XP_016860456.1:p.Ala953Val
XM_017004968.2:c.2204C>T XP_016860457.1:p.Ala735Val
XM_017004969.1:c.1859C>T XP_016860458.1:p.Ala620Val