Canonical Allele Identifier: CA346714924
Community Standard Title: NM_020458.4(TTC7A):c.2272A>T (p.Lys758Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47060888A>T , CM000664.2:g.47060888A>T GRCh38
NC_000002.11:g.47288027A>T , CM000664.1:g.47288027A>T GRCh37
NC_000002.10:g.47141531A>T NCBI36
NG_034143.1:g.149760A>T
NG_034143.2:g.149760A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020458.4:c.2272A>T (TTC7A) MANE Select NP_065191.2:p.Lys758Ter
ENST00000319190.11:c.2272A>T (TTC7A) MANE Select ENSP00000316699.5:p.Lys758Ter
NM_001288951.1:c.2344A>T (TTC7A) NP_001275880.1:p.Lys782Ter
NM_001288951.2:c.2344A>T (TTC7A) NP_001275880.1:p.Lys782Ter
NM_001288953.1:c.2170A>T (TTC7A) NP_001275882.1:p.Lys724Ter
NM_001288953.2:c.2170A>T (TTC7A) NP_001275882.1:p.Lys724Ter
NM_001288955.1:c.1210A>T (TTC7A) NP_001275884.1:p.Lys404Ter
NM_001288955.2:c.1210A>T (TTC7A) NP_001275884.1:p.Lys404Ter
NM_020458.3:c.2272A>T (TTC7A) NP_065191.2:p.Lys758Ter
ENST00000319190.9:c.2272A>T (TTC7A) ENSP00000316699.5:p.Lys758Ter
ENST00000394850.6:c.2344A>T (TTC7A) ENSP00000378320.2:p.Lys782Ter
ENST00000409245.5:c.2170A>T (TTC7A) ENSP00000386307.1:p.Lys724Ter
ENST00000409825.5:c.2220A>T (TTC7A)
ENST00000441914.5:c.2113A>T (TTC7A)
ENST00000484061.5:n.1379A>T (TTC7A)
ENST00000484337.5:n.685A>T (TTC7A)
ENST00000491786.5:n.1676A>T (TTC7A)
ENST00000496939.1:n.416-13969T>A (STPG4)
ENST00000651101.1:n.870A>T (TTC7A)
ENST00000651415.1:n.1063A>T (TTC7A)
ENST00000652236.1:n.973A>T (TTC7A)
ENST00000652568.1:n.945A>T (TTC7A)
ENST00000698500.1:n.4105A>T (TTC7A)
ENST00000698503.1:n.2278A>T (TTC7A)
ENST00000698504.1:n.353A>T (TTC7A)
XM_005264439.2:c.1915A>T (TTC7A) XP_005264496.1:p.Lys639Ter
XM_005264439.4:c.1915A>T (TTC7A) XP_005264496.1:p.Lys639Ter
XM_011532998.1:c.1915A>T (TTC7A) XP_011531300.1:p.Lys639Ter
XM_011532998.3:c.1915A>T (TTC7A) XP_011531300.1:p.Lys639Ter
XM_011533000.1:c.1492A>T (TTC7A) XP_011531302.1:p.Lys498Ter
XM_011533000.3:c.1492A>T (TTC7A) XP_011531302.1:p.Lys498Ter
XM_011533001.1:c.1225A>T (TTC7A) XP_011531303.1:p.Lys409Ter
XM_011533001.3:c.1225A>T (TTC7A) XP_011531303.1:p.Lys409Ter
XM_017004524.1:c.2155A>T (TTC7A) XP_016860013.1:p.Lys719Ter
XM_017004525.1:c.2104A>T (TTC7A) XP_016860014.1:p.Lys702Ter
XM_017004526.1:c.2023A>T (TTC7A) XP_016860015.1:p.Lys675Ter
XM_024453013.1:c.1237A>T (TTC7A) XP_024308781.1:p.Lys413Ter