Canonical Allele Identifier: CA346717528

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300872G>T (hg19) ; chr2:g.47073733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073733G>T , CM000664.2:g.47073733G>T	GRCh38
NC_000002.11:g.47300872G>T , CM000664.1:g.47300872G>T	GRCh37
NC_000002.10:g.47154376G>T	NCBI36
NG_034143.1:g.162605G>T
NG_034143.2:g.162605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4220G>T (TTC7A)
ENST00000698503.1:n.2393G>T (TTC7A)
ENST00000698504.1:n.468G>T (TTC7A)
ENST00000319190.11:c.2387G>T (TTC7A) MANE Select	ENSP00000316699.5:p.Ser796Ile
ENST00000651101.1:n.985G>T (TTC7A)
ENST00000651415.1:n.1178G>T (TTC7A)
ENST00000652236.1:n.1088G>T (TTC7A)
ENST00000652568.1:n.1060G>T (TTC7A)
ENST00000319190.9:c.2387G>T (TTC7A)	ENSP00000316699.5:p.Ser796Ile
ENST00000394850.6:c.2459G>T (TTC7A)	ENSP00000378320.2:p.Ser820Ile
ENST00000409245.5:c.2285G>T (TTC7A)	ENSP00000386307.1:p.Ser762Ile
ENST00000409825.5:c.2335G>T (TTC7A)
ENST00000422269.1:c.787-7596C>A
ENST00000441914.5:c.2228G>T (TTC7A)
ENST00000464527.2:n.399-7596C>A (STPG4)
ENST00000482548.1:n.402-5177C>A (STPG4)
ENST00000484061.5:n.1494G>T (TTC7A)
ENST00000491786.5:n.1791G>T (TTC7A)
ENST00000496939.1:n.416-26814C>A (STPG4)
NM_001288951.1:c.2459G>T (TTC7A)	NP_001275880.1:p.Ser820Ile
NM_001288953.1:c.2285G>T (TTC7A)	NP_001275882.1:p.Ser762Ile
NM_001288955.1:c.1325G>T (TTC7A)	NP_001275884.1:p.Ser442Ile
NM_020458.3:c.2387G>T (TTC7A)	NP_065191.2:p.Ser796Ile
XM_005264439.2:c.2030G>T (TTC7A)	XP_005264496.1:p.Ser677Ile
XM_011532998.1:c.2030G>T (TTC7A)	XP_011531300.1:p.Ser677Ile
XM_011533000.1:c.1607G>T (TTC7A)	XP_011531302.1:p.Ser536Ile
XM_011533001.1:c.1340G>T (TTC7A)	XP_011531303.1:p.Ser447Ile
XM_005264439.4:c.2030G>T (TTC7A)	XP_005264496.1:p.Ser677Ile
XM_011532998.3:c.2030G>T (TTC7A)	XP_011531300.1:p.Ser677Ile
XM_011533000.3:c.1607G>T (TTC7A)	XP_011531302.1:p.Ser536Ile
XM_011533001.3:c.1340G>T (TTC7A)	XP_011531303.1:p.Ser447Ile
XM_017004524.1:c.2270G>T (TTC7A)	XP_016860013.1:p.Ser757Ile
XM_017004525.1:c.2219G>T (TTC7A)	XP_016860014.1:p.Ser740Ile
XM_017004526.1:c.2138G>T (TTC7A)	XP_016860015.1:p.Ser713Ile
XM_024453013.1:c.1352G>T (TTC7A)	XP_024308781.1:p.Ser451Ile
NM_020458.4:c.2387G>T (TTC7A) MANE Select	NP_065191.2:p.Ser796Ile
NM_001288951.2:c.2459G>T (TTC7A)	NP_001275880.1:p.Ser820Ile
NM_001288953.2:c.2285G>T (TTC7A)	NP_001275882.1:p.Ser762Ile
NM_001288955.2:c.1325G>T (TTC7A)	NP_001275884.1:p.Ser442Ile