Canonical Allele Identifier: CA1648166
Community Standard Title: NM_020458.4(TTC7A):c.2444C>T (p.Ala815Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47073790C>T , CM000664.2:g.47073790C>T GRCh38
NC_000002.11:g.47300929C>T , CM000664.1:g.47300929C>T GRCh37
NC_000002.10:g.47154433C>T NCBI36
NG_034143.1:g.162662C>T
NG_034143.2:g.162662C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020458.4:c.2444C>T (TTC7A) MANE Select NP_065191.2:p.Ala815Val
ENST00000319190.11:c.2444C>T (TTC7A) MANE Select ENSP00000316699.5:p.Ala815Val
NM_001288951.1:c.2516C>T (TTC7A) NP_001275880.1:p.Ala839Val
NM_001288951.2:c.2516C>T (TTC7A) NP_001275880.1:p.Ala839Val
NM_001288953.1:c.2342C>T (TTC7A) NP_001275882.1:p.Ala781Val
NM_001288953.2:c.2342C>T (TTC7A) NP_001275882.1:p.Ala781Val
NM_001288955.1:c.1382C>T (TTC7A) NP_001275884.1:p.Ala461Val
NM_001288955.2:c.1382C>T (TTC7A) NP_001275884.1:p.Ala461Val
NM_020458.3:c.2444C>T (TTC7A) NP_065191.2:p.Ala815Val
ENST00000319190.9:c.2444C>T (TTC7A) ENSP00000316699.5:p.Ala815Val
ENST00000394850.6:c.2516C>T (TTC7A) ENSP00000378320.2:p.Ala839Val
ENST00000409245.5:c.2342C>T (TTC7A) ENSP00000386307.1:p.Ala781Val
ENST00000409825.5:c.2392C>T (TTC7A)
ENST00000422269.1:c.787-7653G>A
ENST00000441914.5:c.2285C>T (TTC7A)
ENST00000464527.2:n.399-7653G>A (STPG4)
ENST00000482548.1:n.402-5234G>A (STPG4)
ENST00000484061.5:n.1551C>T (TTC7A)
ENST00000491786.5:n.1848C>T (TTC7A)
ENST00000496939.1:n.416-26871G>A (STPG4)
ENST00000651101.1:n.1042C>T (TTC7A)
ENST00000651415.1:n.1235C>T (TTC7A)
ENST00000652236.1:n.1145C>T (TTC7A)
ENST00000652568.1:n.1117C>T (TTC7A)
ENST00000698500.1:n.4277C>T (TTC7A)
ENST00000698503.1:n.2450C>T (TTC7A)
ENST00000698504.1:n.525C>T (TTC7A)
XM_005264439.2:c.2087C>T (TTC7A) XP_005264496.1:p.Ala696Val
XM_005264439.4:c.2087C>T (TTC7A) XP_005264496.1:p.Ala696Val
XM_011532998.1:c.2087C>T (TTC7A) XP_011531300.1:p.Ala696Val
XM_011532998.3:c.2087C>T (TTC7A) XP_011531300.1:p.Ala696Val
XM_011533000.1:c.1664C>T (TTC7A) XP_011531302.1:p.Ala555Val
XM_011533000.3:c.1664C>T (TTC7A) XP_011531302.1:p.Ala555Val
XM_011533001.1:c.1397C>T (TTC7A) XP_011531303.1:p.Ala466Val
XM_011533001.3:c.1397C>T (TTC7A) XP_011531303.1:p.Ala466Val
XM_017004524.1:c.2327C>T (TTC7A) XP_016860013.1:p.Ala776Val
XM_017004525.1:c.2276C>T (TTC7A) XP_016860014.1:p.Ala759Val
XM_017004526.1:c.2195C>T (TTC7A) XP_016860015.1:p.Ala732Val
XM_024453013.1:c.1409C>T (TTC7A) XP_024308781.1:p.Ala470Val