Canonical Allele Identifier: CA346717505

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs1684975890
• gnomAD v3: 2-47073732-A-C
• gnomAD v4: 2-47073732-A-C
• MyVariant Identifiers: chr2:g.47300871A>C (hg19) ; chr2:g.47073732A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073732A>C , CM000664.2:g.47073732A>C	GRCh38
NC_000002.11:g.47300871A>C , CM000664.1:g.47300871A>C	GRCh37
NC_000002.10:g.47154375A>C	NCBI36
NG_034143.1:g.162604A>C
NG_034143.2:g.162604A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4219A>C (TTC7A)
ENST00000698503.1:n.2392A>C (TTC7A)
ENST00000698504.1:n.467A>C (TTC7A)
ENST00000319190.11:c.2386A>C (TTC7A) MANE Select	ENSP00000316699.5:p.Ser796Arg
ENST00000651101.1:n.984A>C (TTC7A)
ENST00000651415.1:n.1177A>C (TTC7A)
ENST00000652236.1:n.1087A>C (TTC7A)
ENST00000652568.1:n.1059A>C (TTC7A)
ENST00000319190.9:c.2386A>C (TTC7A)	ENSP00000316699.5:p.Ser796Arg
ENST00000394850.6:c.2458A>C (TTC7A)	ENSP00000378320.2:p.Ser820Arg
ENST00000409245.5:c.2284A>C (TTC7A)	ENSP00000386307.1:p.Ser762Arg
ENST00000409825.5:c.2334A>C (TTC7A)
ENST00000422269.1:c.787-7595T>G
ENST00000441914.5:c.2227A>C (TTC7A)
ENST00000464527.2:n.399-7595T>G (STPG4)
ENST00000482548.1:n.402-5176T>G (STPG4)
ENST00000484061.5:n.1493A>C (TTC7A)
ENST00000491786.5:n.1790A>C (TTC7A)
ENST00000496939.1:n.416-26813T>G (STPG4)
NM_001288951.1:c.2458A>C (TTC7A)	NP_001275880.1:p.Ser820Arg
NM_001288953.1:c.2284A>C (TTC7A)	NP_001275882.1:p.Ser762Arg
NM_001288955.1:c.1324A>C (TTC7A)	NP_001275884.1:p.Ser442Arg
NM_020458.3:c.2386A>C (TTC7A)	NP_065191.2:p.Ser796Arg
XM_005264439.2:c.2029A>C (TTC7A)	XP_005264496.1:p.Ser677Arg
XM_011532998.1:c.2029A>C (TTC7A)	XP_011531300.1:p.Ser677Arg
XM_011533000.1:c.1606A>C (TTC7A)	XP_011531302.1:p.Ser536Arg
XM_011533001.1:c.1339A>C (TTC7A)	XP_011531303.1:p.Ser447Arg
XM_005264439.4:c.2029A>C (TTC7A)	XP_005264496.1:p.Ser677Arg
XM_011532998.3:c.2029A>C (TTC7A)	XP_011531300.1:p.Ser677Arg
XM_011533000.3:c.1606A>C (TTC7A)	XP_011531302.1:p.Ser536Arg
XM_011533001.3:c.1339A>C (TTC7A)	XP_011531303.1:p.Ser447Arg
XM_017004524.1:c.2269A>C (TTC7A)	XP_016860013.1:p.Ser757Arg
XM_017004525.1:c.2218A>C (TTC7A)	XP_016860014.1:p.Ser740Arg
XM_017004526.1:c.2137A>C (TTC7A)	XP_016860015.1:p.Ser713Arg
XM_024453013.1:c.1351A>C (TTC7A)	XP_024308781.1:p.Ser451Arg
NM_020458.4:c.2386A>C (TTC7A) MANE Select	NP_065191.2:p.Ser796Arg
NM_001288951.2:c.2458A>C (TTC7A)	NP_001275880.1:p.Ser820Arg
NM_001288953.2:c.2284A>C (TTC7A)	NP_001275882.1:p.Ser762Arg
NM_001288955.2:c.1324A>C (TTC7A)	NP_001275884.1:p.Ser442Arg