Canonical Allele Identifier: CA346718347

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs956412071
• MyVariant Identifiers: chr2:g.47301060T>C (hg19) ; chr2:g.47073921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073921T>C , CM000664.2:g.47073921T>C	GRCh38
NC_000002.11:g.47301060T>C , CM000664.1:g.47301060T>C	GRCh37
NC_000002.10:g.47154564T>C	NCBI36
NG_034143.1:g.162793T>C
NG_034143.2:g.162793T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4408T>C (TTC7A)
ENST00000698503.1:n.2581T>C (TTC7A)
ENST00000319190.11:c.2575T>C (TTC7A) MANE Select	ENSP00000316699.5:p.Ter859Arg
ENST00000651101.1:n.1173T>C (TTC7A)
ENST00000651415.1:n.1366T>C (TTC7A)
ENST00000652236.1:n.1276T>C (TTC7A)
ENST00000652568.1:n.1248T>C (TTC7A)
ENST00000319190.9:c.2575T>C (TTC7A)	ENSP00000316699.5:p.Ter859Arg
ENST00000394850.6:c.2647T>C (TTC7A)	ENSP00000378320.2:p.Ter883Arg
ENST00000409245.5:c.2473T>C (TTC7A)	ENSP00000386307.1:p.Ter825Arg
ENST00000409825.5:c.2523T>C (TTC7A)
ENST00000422269.1:c.787-7784A>G
ENST00000441914.5:c.2416T>C (TTC7A)
ENST00000464527.2:n.399-7784A>G (STPG4)
ENST00000482548.1:n.402-5365A>G (STPG4)
ENST00000484061.5:n.1682T>C (TTC7A)
ENST00000491786.5:n.1979T>C (TTC7A)
ENST00000496939.1:n.416-27002A>G (STPG4)
NM_001288951.1:c.2647T>C (TTC7A)	NP_001275880.1:p.Ter883Arg
NM_001288953.1:c.2473T>C (TTC7A)	NP_001275882.1:p.Ter825Arg
NM_001288955.1:c.1513T>C (TTC7A)	NP_001275884.1:p.Ter505Arg
NM_020458.3:c.2575T>C (TTC7A)	NP_065191.2:p.Ter859Arg
XM_005264439.2:c.2218T>C (TTC7A)	XP_005264496.1:p.Ter740Arg
XM_011532998.1:c.2218T>C (TTC7A)	XP_011531300.1:p.Ter740Arg
XM_011533000.1:c.1795T>C (TTC7A)	XP_011531302.1:p.Ter599Arg
XM_011533001.1:c.1528T>C (TTC7A)	XP_011531303.1:p.Ter510Arg
XM_005264439.4:c.2218T>C (TTC7A)	XP_005264496.1:p.Ter740Arg
XM_011532998.3:c.2218T>C (TTC7A)	XP_011531300.1:p.Ter740Arg
XM_011533000.3:c.1795T>C (TTC7A)	XP_011531302.1:p.Ter599Arg
XM_011533001.3:c.1528T>C (TTC7A)	XP_011531303.1:p.Ter510Arg
XM_017004524.1:c.2458T>C (TTC7A)	XP_016860013.1:p.Ter820Arg
XM_017004525.1:c.2407T>C (TTC7A)	XP_016860014.1:p.Ter803Arg
XM_017004526.1:c.2326T>C (TTC7A)	XP_016860015.1:p.Ter776Arg
XM_024453013.1:c.1540T>C (TTC7A)	XP_024308781.1:p.Ter514Arg
NM_020458.4:c.2575T>C (TTC7A) MANE Select	NP_065191.2:p.Ter859Arg
NM_001288951.2:c.2647T>C (TTC7A)	NP_001275880.1:p.Ter883Arg
NM_001288953.2:c.2473T>C (TTC7A)	NP_001275882.1:p.Ter825Arg
NM_001288955.2:c.1513T>C (TTC7A)	NP_001275884.1:p.Ter505Arg