Canonical Allele Identifier: CA10654754
Gene: TTC7A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369683
ClinVar RCV Id: RCV000408605
dbSNP Id: rs1057516047

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47073816C>T , CM000664.2:g.47073816C>T GRCh38
NC_000002.11:g.47300955C>T , CM000664.1:g.47300955C>T GRCh37
NC_000002.10:g.47154459C>T NCBI36
NG_034143.1:g.162688C>T
NG_034143.2:g.162688C>T

Transcript Alleles

HGVS Amino-acid change
NM_001288951.1:c.2542C>T VV NP_001275880.1:p.Gln848Ter
NM_001288953.1:c.2368C>T VV NP_001275882.1:p.Gln790Ter
NM_001288955.1:c.1408C>T VV NP_001275884.1:p.Gln470Ter
NM_020458.3:c.2470C>T VV NP_065191.2:p.Gln824Ter
XM_005264439.2:c.2113C>T XP_005264496.1:p.Gln705Ter
XM_011532998.1:c.2113C>T XP_011531300.1:p.Gln705Ter
XM_011533000.1:c.1690C>T XP_011531302.1:p.Gln564Ter
XM_011533001.1:c.1423C>T XP_011531303.1:p.Gln475Ter
XM_005264439.4:c.2113C>T XP_005264496.1:p.Gln705Ter
XM_011532998.3:c.2113C>T XP_011531300.1:p.Gln705Ter
XM_011533000.3:c.1690C>T XP_011531302.1:p.Gln564Ter
XM_011533001.3:c.1423C>T XP_011531303.1:p.Gln475Ter
XM_017004524.1:c.2353C>T XP_016860013.1:p.Gln785Ter
XM_017004525.1:c.2302C>T XP_016860014.1:p.Gln768Ter
XM_017004526.1:c.2221C>T XP_016860015.1:p.Gln741Ter
XM_024453013.1:c.1435C>T XP_024308781.1:p.Gln479Ter
NM_020458.4:c.2470C>T VV NP_065191.2:p.Gln824Ter
ENST00000319190.9:c.2470C>T ENSP00000316699.5:p.Gln824Ter
ENST00000394850.6:c.2542C>T ENSP00000378320.2:p.Gln848Ter
ENST00000409245.5:c.2368C>T ENSP00000386307.1:p.Gln790Ter
ENST00000409825.5:n.2418C>T
ENST00000422269.1:n.787-7679G>A
ENST00000441914.5:n.2311C>T
ENST00000464527.2:n.399-7679G>A
ENST00000482548.1:n.402-5260G>A
ENST00000484061.5:n.1577C>T
ENST00000491786.5:n.1874C>T
ENST00000496939.1:n.416-26897G>A