Canonical Allele Identifier: CA346719777

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47046381C>A , CM000664.2:g.47046381C>A	GRCh38
NC_000002.11:g.47273520C>A , CM000664.1:g.47273520C>A	GRCh37
NC_000002.10:g.47127024C>A	NCBI36
NG_034143.1:g.135253C>A
NG_034143.2:g.135253C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1869C>A (TTC7A) MANE Select	NP_065191.2:p.Cys623Ter
ENST00000319190.11:c.1869C>A (TTC7A) MANE Select	ENSP00000316699.5:p.Cys623Ter
NM_001288951.1:c.1869C>A (TTC7A)	NP_001275880.1:p.Cys623Ter
NM_001288951.2:c.1869C>A (TTC7A)	NP_001275880.1:p.Cys623Ter
NM_001288953.1:c.1767C>A (TTC7A)	NP_001275882.1:p.Cys589Ter
NM_001288953.2:c.1767C>A (TTC7A)	NP_001275882.1:p.Cys589Ter
NM_001288955.1:c.807C>A (TTC7A)	NP_001275884.1:p.Cys269Ter
NM_001288955.2:c.807C>A (TTC7A)	NP_001275884.1:p.Cys269Ter
NM_020458.3:c.1869C>A (TTC7A)	NP_065191.2:p.Cys623Ter
ENST00000319190.9:c.1869C>A (TTC7A)	ENSP00000316699.5:p.Cys623Ter
ENST00000394850.6:c.1869C>A (TTC7A)	ENSP00000378320.2:p.Cys623Ter
ENST00000409245.5:c.1767C>A (TTC7A)	ENSP00000386307.1:p.Cys589Ter
ENST00000409825.5:c.1817C>A (TTC7A)
ENST00000440051.1:c.610-3568C>A (TTC7A)
ENST00000441914.5:c.1710C>A (TTC7A)
ENST00000461601.5:n.2128-3568C>A (TTC7A)
ENST00000484061.5:n.976C>A (TTC7A)
ENST00000484337.5:n.282C>A (TTC7A)
ENST00000491786.5:n.1273C>A (TTC7A)
ENST00000496939.1:n.518+436G>T (STPG4)
ENST00000496991.3:n.67C>A (TTC7A)
ENST00000651101.1:n.751-14388C>A (TTC7A)
ENST00000651415.1:n.660C>A (TTC7A)
ENST00000652236.1:n.570C>A (TTC7A)
ENST00000652568.1:n.542C>A (TTC7A)
ENST00000698500.1:n.3702C>A (TTC7A)
ENST00000698503.1:n.1875C>A (TTC7A)
ENST00000698504.1:n.138C>A (TTC7A)
XM_005264439.2:c.1512C>A (TTC7A)	XP_005264496.1:p.Cys504Ter
XM_005264439.4:c.1512C>A (TTC7A)	XP_005264496.1:p.Cys504Ter
XM_011532998.1:c.1512C>A (TTC7A)	XP_011531300.1:p.Cys504Ter
XM_011532998.3:c.1512C>A (TTC7A)	XP_011531300.1:p.Cys504Ter
XM_011532999.1:c.1869C>A (TTC7A)	XP_011531301.1:p.Cys623Ter
XM_011532999.2:c.1869C>A (TTC7A)	XP_011531301.1:p.Cys623Ter
XM_011533000.1:c.1089C>A (TTC7A)	XP_011531302.1:p.Cys363Ter
XM_011533000.3:c.1089C>A (TTC7A)	XP_011531302.1:p.Cys363Ter
XM_011533001.1:c.822C>A (TTC7A)	XP_011531303.1:p.Cys274Ter
XM_011533001.3:c.822C>A (TTC7A)	XP_011531303.1:p.Cys274Ter
XM_017004524.1:c.1803-3568C>A (TTC7A)	XP_016860013.1:n.1803-3568C>A
XM_017004525.1:c.1701C>A (TTC7A)	XP_016860014.1:p.Cys567Ter
XM_017004526.1:c.1620C>A (TTC7A)	XP_016860015.1:p.Cys540Ter
XM_017004529.1:c.1869C>A (TTC7A)	XP_016860018.1:p.Cys623Ter
XM_024453013.1:c.834C>A (TTC7A)	XP_024308781.1:p.Cys278Ter
XR_001738853.2:n.2254C>A (TTC7A)
XR_001738854.1:n.1996-3568C>A (TTC7A)
XR_939696.1:n.2174C>A (TTC7A)