Canonical Allele Identifier: CA346718684

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46956902C>T , CM000664.2:g.46956902C>T	GRCh38
NC_000002.11:g.47184041C>T , CM000664.1:g.47184041C>T	GRCh37
NC_000002.10:g.47037545C>T	NCBI36
NG_034143.1:g.45774C>T
NG_034143.2:g.45774C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.412C>T MANE Select	NP_065191.2:p.Arg138Ter
ENST00000319190.11:c.412C>T MANE Select	ENSP00000316699.5:p.Arg138Ter
NM_001288951.1:c.412C>T	NP_001275880.1:p.Arg138Ter
NM_001288951.2:c.412C>T	NP_001275880.1:p.Arg138Ter
NM_001288953.1:c.310C>T	NP_001275882.1:p.Arg104Ter
NM_001288953.2:c.310C>T	NP_001275882.1:p.Arg104Ter
NM_001288955.1:c.-493C>T	NP_001275884.1:n.-493C>T
NM_001288955.2:c.-493C>T	NP_001275884.1:n.-493C>T
NM_020458.3:c.412C>T	NP_065191.2:p.Arg138Ter
ENST00000319190.9:c.412C>T	ENSP00000316699.5:p.Arg138Ter
ENST00000394850.6:c.412C>T	ENSP00000378320.2:p.Arg138Ter
ENST00000409245.5:c.310C>T	ENSP00000386307.1:p.Arg104Ter
ENST00000409825.5:c.302C>T
ENST00000441914.5:c.411C>T
ENST00000461601.5:n.679C>T
ENST00000698500.1:n.1359C>T
XM_005264439.2:c.-4C>T	XP_005264496.1:n.-4C>T
XM_005264439.4:c.-4C>T	XP_005264496.1:n.-4C>T
XM_011532998.1:c.-4C>T	XP_011531300.1:n.-4C>T
XM_011532998.3:c.-4C>T	XP_011531300.1:n.-4C>T
XM_011532999.1:c.412C>T	XP_011531301.1:p.Arg138Ter
XM_011532999.2:c.412C>T	XP_011531301.1:p.Arg138Ter
XM_017004524.1:c.412C>T	XP_016860013.1:p.Arg138Ter
XM_017004525.1:c.244C>T	XP_016860014.1:p.Arg82Ter
XM_017004526.1:c.412C>T	XP_016860015.1:p.Arg138Ter
XM_017004529.1:c.412C>T	XP_016860018.1:p.Arg138Ter
XR_001738853.2:n.724C>T
XR_001738854.1:n.723C>T
XR_939696.1:n.717C>T