Canonical Allele Identifier: CA346715478

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47011433T>C , CM000664.2:g.47011433T>C	GRCh38
NC_000002.11:g.47238572T>C , CM000664.1:g.47238572T>C	GRCh37
NC_000002.10:g.47092076T>C	NCBI36
NG_034143.1:g.100305T>C
NG_034143.2:g.100305T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1390T>C MANE Select	NP_065191.2:p.Trp464Arg
ENST00000319190.11:c.1390T>C MANE Select	ENSP00000316699.5:p.Trp464Arg
NM_001288951.1:c.1390T>C	NP_001275880.1:p.Trp464Arg
NM_001288951.2:c.1390T>C	NP_001275880.1:p.Trp464Arg
NM_001288953.1:c.1288T>C	NP_001275882.1:p.Trp430Arg
NM_001288953.2:c.1288T>C	NP_001275882.1:p.Trp430Arg
NM_001288955.1:c.328T>C	NP_001275884.1:p.Trp110Arg
NM_001288955.2:c.328T>C	NP_001275884.1:p.Trp110Arg
NM_020458.3:c.1390T>C	NP_065191.2:p.Trp464Arg
ENST00000319190.9:c.1390T>C	ENSP00000316699.5:p.Trp464Arg
ENST00000394850.6:c.1390T>C	ENSP00000378320.2:p.Trp464Arg
ENST00000409245.5:c.1288T>C	ENSP00000386307.1:p.Trp430Arg
ENST00000409825.5:c.1338T>C
ENST00000440051.1:c.315T>C
ENST00000441914.5:c.1231T>C
ENST00000461601.5:n.1715T>C
ENST00000484061.5:n.673T>C
ENST00000491786.5:n.794T>C
ENST00000651101.1:n.338T>C
ENST00000651415.1:n.181T>C
ENST00000652236.1:n.149T>C
ENST00000652568.1:n.181T>C
ENST00000698500.1:n.3223T>C
XM_005264439.2:c.1033T>C	XP_005264496.1:p.Trp345Arg
XM_005264439.4:c.1033T>C	XP_005264496.1:p.Trp345Arg
XM_011532998.1:c.1033T>C	XP_011531300.1:p.Trp345Arg
XM_011532998.3:c.1033T>C	XP_011531300.1:p.Trp345Arg
XM_011532999.1:c.1390T>C	XP_011531301.1:p.Trp464Arg
XM_011532999.2:c.1390T>C	XP_011531301.1:p.Trp464Arg
XM_011533000.1:c.610T>C	XP_011531302.1:p.Trp204Arg
XM_011533000.3:c.610T>C	XP_011531302.1:p.Trp204Arg
XM_011533001.1:c.343T>C	XP_011531303.1:p.Trp115Arg
XM_011533001.3:c.343T>C	XP_011531303.1:p.Trp115Arg
XM_017004524.1:c.1390T>C	XP_016860013.1:p.Trp464Arg
XM_017004525.1:c.1222T>C	XP_016860014.1:p.Trp408Arg
XM_017004526.1:c.1390T>C	XP_016860015.1:p.Trp464Arg
XM_017004529.1:c.1390T>C	XP_016860018.1:p.Trp464Arg
XM_024453013.1:c.355T>C	XP_024308781.1:p.Trp119Arg
XR_001738853.2:n.1702T>C
XR_001738854.1:n.1701T>C
XR_939696.1:n.1695T>C