Canonical Allele Identifier: CA1647252

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46975011C>T , CM000664.2:g.46975011C>T	GRCh38
NC_000002.11:g.47202150C>T , CM000664.1:g.47202150C>T	GRCh37
NC_000002.10:g.47055654C>T	NCBI36
NG_034143.1:g.63883C>T
NG_034143.2:g.63883C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.556C>T MANE Select	NP_065191.2:p.Arg186Cys
ENST00000319190.11:c.556C>T MANE Select	ENSP00000316699.5:p.Arg186Cys
NM_001288951.1:c.556C>T	NP_001275880.1:p.Arg186Cys
NM_001288951.2:c.556C>T	NP_001275880.1:p.Arg186Cys
NM_001288953.1:c.454C>T	NP_001275882.1:p.Arg152Cys
NM_001288953.2:c.454C>T	NP_001275882.1:p.Arg152Cys
NM_001288955.1:c.-349C>T	NP_001275884.1:n.-349C>T
NM_001288955.2:c.-349C>T	NP_001275884.1:n.-349C>T
NM_020458.3:c.556C>T	NP_065191.2:p.Arg186Cys
ENST00000319190.9:c.556C>T	ENSP00000316699.5:p.Arg186Cys
ENST00000394850.6:c.556C>T	ENSP00000378320.2:p.Arg186Cys
ENST00000409245.5:c.454C>T	ENSP00000386307.1:p.Arg152Cys
ENST00000409825.5:c.504C>T
ENST00000441914.5:c.555C>T
ENST00000461601.5:n.881C>T
ENST00000698500.1:n.1561C>T
XM_005264439.2:c.199C>T	XP_005264496.1:p.Arg67Cys
XM_005264439.4:c.199C>T	XP_005264496.1:p.Arg67Cys
XM_011532998.1:c.199C>T	XP_011531300.1:p.Arg67Cys
XM_011532998.3:c.199C>T	XP_011531300.1:p.Arg67Cys
XM_011532999.1:c.556C>T	XP_011531301.1:p.Arg186Cys
XM_011532999.2:c.556C>T	XP_011531301.1:p.Arg186Cys
XM_017004524.1:c.556C>T	XP_016860013.1:p.Arg186Cys
XM_017004525.1:c.388C>T	XP_016860014.1:p.Arg130Cys
XM_017004526.1:c.556C>T	XP_016860015.1:p.Arg186Cys
XM_017004529.1:c.556C>T	XP_016860018.1:p.Arg186Cys
XR_001738853.2:n.868C>T
XR_001738854.1:n.867C>T
XR_939696.1:n.861C>T