Canonical Allele Identifier: CA1647360

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46993478C>T , CM000664.2:g.46993478C>T	GRCh38
NC_000002.11:g.47220617C>T , CM000664.1:g.47220617C>T	GRCh37
NC_000002.10:g.47074121C>T	NCBI36
NG_034143.1:g.82350C>T
NG_034143.2:g.82350C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.793C>T MANE Select	NP_065191.2:p.Arg265Trp
ENST00000319190.11:c.793C>T MANE Select	ENSP00000316699.5:p.Arg265Trp
NM_001288951.1:c.793C>T	NP_001275880.1:p.Arg265Trp
NM_001288951.2:c.793C>T	NP_001275880.1:p.Arg265Trp
NM_001288953.1:c.691C>T	NP_001275882.1:p.Arg231Trp
NM_001288953.2:c.691C>T	NP_001275882.1:p.Arg231Trp
NM_001288955.1:c.-112C>T	NP_001275884.1:n.-112C>T
NM_001288955.2:c.-112C>T	NP_001275884.1:n.-112C>T
NM_020458.3:c.793C>T	NP_065191.2:p.Arg265Trp
ENST00000319190.9:c.793C>T	ENSP00000316699.5:p.Arg265Trp
ENST00000394850.6:c.793C>T	ENSP00000378320.2:p.Arg265Trp
ENST00000409245.5:c.691C>T	ENSP00000386307.1:p.Arg231Trp
ENST00000409825.5:c.741C>T
ENST00000441914.5:c.792C>T
ENST00000461601.5:n.1118C>T
ENST00000474321.6:n.277C>T
ENST00000491786.5:n.197C>T
ENST00000698500.1:n.1798C>T
XM_005264439.2:c.436C>T	XP_005264496.1:p.Arg146Trp
XM_005264439.4:c.436C>T	XP_005264496.1:p.Arg146Trp
XM_011532998.1:c.436C>T	XP_011531300.1:p.Arg146Trp
XM_011532998.3:c.436C>T	XP_011531300.1:p.Arg146Trp
XM_011532999.1:c.793C>T	XP_011531301.1:p.Arg265Trp
XM_011532999.2:c.793C>T	XP_011531301.1:p.Arg265Trp
XM_011533000.1:c.13C>T	XP_011531302.1:p.Arg5Trp
XM_011533000.3:c.13C>T	XP_011531302.1:p.Arg5Trp
XM_017004524.1:c.793C>T	XP_016860013.1:p.Arg265Trp
XM_017004525.1:c.625C>T	XP_016860014.1:p.Arg209Trp
XM_017004526.1:c.793C>T	XP_016860015.1:p.Arg265Trp
XM_017004529.1:c.793C>T	XP_016860018.1:p.Arg265Trp
XR_001738853.2:n.1105C>T
XR_001738854.1:n.1104C>T
XR_939696.1:n.1098C>T