Canonical Allele Identifier: CA1647958
Community Standard Title: NM_020458.4(TTC7A):c.2015C>T (p.Ser672Phe)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47050044C>T , CM000664.2:g.47050044C>T GRCh38
NC_000002.11:g.47277183C>T , CM000664.1:g.47277183C>T GRCh37
NC_000002.10:g.47130687C>T NCBI36
NG_034143.1:g.138916C>T
NG_034143.2:g.138916C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020458.4:c.2015C>T (TTC7A) MANE Select NP_065191.2:p.Ser672Phe
ENST00000319190.11:c.2015C>T (TTC7A) MANE Select ENSP00000316699.5:p.Ser672Phe
NM_001288951.1:c.2087C>T (TTC7A) NP_001275880.1:p.Ser696Phe
NM_001288951.2:c.2087C>T (TTC7A) NP_001275880.1:p.Ser696Phe
NM_001288953.1:c.1913C>T (TTC7A) NP_001275882.1:p.Ser638Phe
NM_001288953.2:c.1913C>T (TTC7A) NP_001275882.1:p.Ser638Phe
NM_001288955.1:c.953C>T (TTC7A) NP_001275884.1:p.Ser318Phe
NM_001288955.2:c.953C>T (TTC7A) NP_001275884.1:p.Ser318Phe
NM_020458.3:c.2015C>T (TTC7A) NP_065191.2:p.Ser672Phe
ENST00000319190.9:c.2015C>T (TTC7A) ENSP00000316699.5:p.Ser672Phe
ENST00000394850.6:c.2087C>T (TTC7A) ENSP00000378320.2:p.Ser696Phe
ENST00000409245.5:c.1913C>T (TTC7A) ENSP00000386307.1:p.Ser638Phe
ENST00000409825.5:c.1963C>T (TTC7A)
ENST00000441914.5:c.1856C>T (TTC7A)
ENST00000484061.5:n.1122C>T (TTC7A)
ENST00000484337.5:n.428C>T (TTC7A)
ENST00000491786.5:n.1419C>T (TTC7A)
ENST00000496939.1:n.416-3125G>A (STPG4)
ENST00000496991.3:n.213C>T (TTC7A)
ENST00000651101.1:n.751-10725C>T (TTC7A)
ENST00000651415.1:n.806C>T (TTC7A)
ENST00000652236.1:n.716C>T (TTC7A)
ENST00000652568.1:n.688C>T (TTC7A)
ENST00000698500.1:n.3848C>T (TTC7A)
ENST00000698503.1:n.2021C>T (TTC7A)
ENST00000698504.1:n.284C>T (TTC7A)
XM_005264439.2:c.1658C>T (TTC7A) XP_005264496.1:p.Ser553Phe
XM_005264439.4:c.1658C>T (TTC7A) XP_005264496.1:p.Ser553Phe
XM_011532998.1:c.1658C>T (TTC7A) XP_011531300.1:p.Ser553Phe
XM_011532998.3:c.1658C>T (TTC7A) XP_011531300.1:p.Ser553Phe
XM_011532999.1:c.2015C>T (TTC7A) XP_011531301.1:p.Ser672Phe
XM_011532999.2:c.2015C>T (TTC7A) XP_011531301.1:p.Ser672Phe
XM_011533000.1:c.1235C>T (TTC7A) XP_011531302.1:p.Ser412Phe
XM_011533000.3:c.1235C>T (TTC7A) XP_011531302.1:p.Ser412Phe
XM_011533001.1:c.968C>T (TTC7A) XP_011531303.1:p.Ser323Phe
XM_011533001.3:c.968C>T (TTC7A) XP_011531303.1:p.Ser323Phe
XM_017004524.1:c.1898C>T (TTC7A) XP_016860013.1:p.Ser633Phe
XM_017004525.1:c.1847C>T (TTC7A) XP_016860014.1:p.Ser616Phe
XM_017004526.1:c.1766C>T (TTC7A) XP_016860015.1:p.Ser589Phe
XM_017004529.1:c.2015C>T (TTC7A) XP_016860018.1:p.Ser672Phe
XM_024453013.1:c.980C>T (TTC7A) XP_024308781.1:p.Ser327Phe
XR_001738853.2:n.2400C>T (TTC7A)
XR_939696.1:n.2320C>T (TTC7A)