Canonical Allele Identifier: CA163419
Gene: TTC7A HGNC NCBI

Linked Data

ClinVar Variation Id: 140577
ClinVar RCV Id: RCV000128794
dbSNP Id: rs587777547

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46993514C>T , CM000664.2:g.46993514C>T GRCh38
NC_000002.11:g.47220653C>T , CM000664.1:g.47220653C>T GRCh37
NC_000002.10:g.47074157C>T NCBI36
NG_034143.1:g.82386C>T
NG_034143.2:g.82386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698500.1:n.1834C>T
ENST00000319190.11:c.829C>T MANE Select ENSP00000316699.5:p.Gln277Ter
ENST00000319190.9:c.829C>T ENSP00000316699.5:p.Gln277Ter
ENST00000394850.6:c.829C>T ENSP00000378320.2:p.Gln277Ter
ENST00000409245.5:c.727C>T ENSP00000386307.1:p.Gln243Ter
ENST00000409825.5:c.777C>T
ENST00000441914.5:c.828C>T
ENST00000461601.5:n.1154C>T
ENST00000474321.6:n.313C>T
ENST00000491786.5:n.233C>T
NM_001288951.1:c.829C>T NP_001275880.1:p.Gln277Ter
NM_001288953.1:c.727C>T NP_001275882.1:p.Gln243Ter
NM_001288955.1:c.-76C>T NP_001275884.1:n.-76C>T
NM_020458.3:c.829C>T NP_065191.2:p.Gln277Ter
XM_005264439.2:c.472C>T XP_005264496.1:p.Gln158Ter
XM_011532998.1:c.472C>T XP_011531300.1:p.Gln158Ter
XM_011532999.1:c.829C>T XP_011531301.1:p.Gln277Ter
XM_011533000.1:c.49C>T XP_011531302.1:p.Gln17Ter
XR_939696.1:n.1134C>T
XM_005264439.4:c.472C>T XP_005264496.1:p.Gln158Ter
XM_011532998.3:c.472C>T XP_011531300.1:p.Gln158Ter
XM_011532999.2:c.829C>T XP_011531301.1:p.Gln277Ter
XM_011533000.3:c.49C>T XP_011531302.1:p.Gln17Ter
XM_017004524.1:c.829C>T XP_016860013.1:p.Gln277Ter
XM_017004525.1:c.661C>T XP_016860014.1:p.Gln221Ter
XM_017004526.1:c.829C>T XP_016860015.1:p.Gln277Ter
XM_017004529.1:c.829C>T XP_016860018.1:p.Gln277Ter
XR_001738853.2:n.1141C>T
XR_001738854.1:n.1140C>T
NM_020458.4:c.829C>T MANE Select NP_065191.2:p.Gln277Ter
NM_001288951.2:c.829C>T NP_001275880.1:p.Gln277Ter
NM_001288953.2:c.727C>T NP_001275882.1:p.Gln243Ter
NM_001288955.2:c.-76C>T NP_001275884.1:n.-76C>T