Canonical Allele Identifier: CA2495644033

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47073894C= , CM000664.2:g.47073894C= GRCh38
NC_000002.11:g.47301033C= , CM000664.1:g.47301033C= GRCh37
NC_000002.10:g.47154537C= NCBI36
NG_034143.1:g.162766C=
NG_034143.2:g.162766C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698500.1:n.4381C= (TTC7A)
ENST00000698503.1:n.2554C= (TTC7A)
ENST00000319190.11:c.2548C= (TTC7A) MANE Select ENSP00000316699.5:p.Pro850=
ENST00000651101.1:n.1146C= (TTC7A)
ENST00000651415.1:n.1339C= (TTC7A)
ENST00000652236.1:n.1249C= (TTC7A)
ENST00000652568.1:n.1221C= (TTC7A)
ENST00000319190.9:c.2548C= (TTC7A) ENSP00000316699.5:p.Pro850=
ENST00000394850.6:c.2620C= (TTC7A) ENSP00000378320.2:p.Pro874=
ENST00000409245.5:c.2446C= (TTC7A) ENSP00000386307.1:p.Pro816=
ENST00000409825.5:c.2496C= (TTC7A)
ENST00000422269.1:c.787-7757G=
ENST00000441914.5:c.2389C= (TTC7A)
ENST00000464527.2:n.399-7757G= (STPG4)
ENST00000482548.1:n.402-5338G= (STPG4)
ENST00000484061.5:n.1655C= (TTC7A)
ENST00000491786.5:n.1952C= (TTC7A)
ENST00000496939.1:n.416-26975G= (STPG4)
NM_001288951.1:c.2620C= (TTC7A) NP_001275880.1:p.Pro874=
NM_001288953.1:c.2446C= (TTC7A) NP_001275882.1:p.Pro816=
NM_001288955.1:c.1486C= (TTC7A) NP_001275884.1:p.Pro496=
NM_020458.3:c.2548C= (TTC7A) NP_065191.2:p.Pro850=
XM_005264439.2:c.2191C= (TTC7A) XP_005264496.1:p.Pro731=
XM_011532998.1:c.2191C= (TTC7A) XP_011531300.1:p.Pro731=
XM_011533000.1:c.1768C= (TTC7A) XP_011531302.1:p.Pro590=
XM_011533001.1:c.1501C= (TTC7A) XP_011531303.1:p.Pro501=
XM_005264439.4:c.2191C= (TTC7A) XP_005264496.1:p.Pro731=
XM_011532998.3:c.2191C= (TTC7A) XP_011531300.1:p.Pro731=
XM_011533000.3:c.1768C= (TTC7A) XP_011531302.1:p.Pro590=
XM_011533001.3:c.1501C= (TTC7A) XP_011531303.1:p.Pro501=
XM_017004524.1:c.2431C= (TTC7A) XP_016860013.1:p.Pro811=
XM_017004525.1:c.2380C= (TTC7A) XP_016860014.1:p.Pro794=
XM_017004526.1:c.2299C= (TTC7A) XP_016860015.1:p.Pro767=
XM_024453013.1:c.1513C= (TTC7A) XP_024308781.1:p.Pro505=
NM_020458.4:c.2548C= (TTC7A) MANE Select NP_065191.2:p.Pro850=
NM_001288951.2:c.2620C= (TTC7A) NP_001275880.1:p.Pro874=
NM_001288953.2:c.2446C= (TTC7A) NP_001275882.1:p.Pro816=
NM_001288955.2:c.1486C= (TTC7A) NP_001275884.1:p.Pro496=