Canonical Allele Identifier: CA346717564

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300875T>G (hg19) ; chr2:g.47073736T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073736T>G , CM000664.2:g.47073736T>G	GRCh38
NC_000002.11:g.47300875T>G , CM000664.1:g.47300875T>G	GRCh37
NC_000002.10:g.47154379T>G	NCBI36
NG_034143.1:g.162608T>G
NG_034143.2:g.162608T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4223T>G (TTC7A)
ENST00000698503.1:n.2396T>G (TTC7A)
ENST00000698504.1:n.471T>G (TTC7A)
ENST00000319190.11:c.2390T>G (TTC7A) MANE Select	ENSP00000316699.5:p.Leu797Trp
ENST00000651101.1:n.988T>G (TTC7A)
ENST00000651415.1:n.1181T>G (TTC7A)
ENST00000652236.1:n.1091T>G (TTC7A)
ENST00000652568.1:n.1063T>G (TTC7A)
ENST00000319190.9:c.2390T>G (TTC7A)	ENSP00000316699.5:p.Leu797Trp
ENST00000394850.6:c.2462T>G (TTC7A)	ENSP00000378320.2:p.Leu821Trp
ENST00000409245.5:c.2288T>G (TTC7A)	ENSP00000386307.1:p.Leu763Trp
ENST00000409825.5:c.2338T>G (TTC7A)
ENST00000422269.1:c.787-7599A>C
ENST00000441914.5:c.2231T>G (TTC7A)
ENST00000464527.2:n.399-7599A>C (STPG4)
ENST00000482548.1:n.402-5180A>C (STPG4)
ENST00000484061.5:n.1497T>G (TTC7A)
ENST00000491786.5:n.1794T>G (TTC7A)
ENST00000496939.1:n.416-26817A>C (STPG4)
NM_001288951.1:c.2462T>G (TTC7A)	NP_001275880.1:p.Leu821Trp
NM_001288953.1:c.2288T>G (TTC7A)	NP_001275882.1:p.Leu763Trp
NM_001288955.1:c.1328T>G (TTC7A)	NP_001275884.1:p.Leu443Trp
NM_020458.3:c.2390T>G (TTC7A)	NP_065191.2:p.Leu797Trp
XM_005264439.2:c.2033T>G (TTC7A)	XP_005264496.1:p.Leu678Trp
XM_011532998.1:c.2033T>G (TTC7A)	XP_011531300.1:p.Leu678Trp
XM_011533000.1:c.1610T>G (TTC7A)	XP_011531302.1:p.Leu537Trp
XM_011533001.1:c.1343T>G (TTC7A)	XP_011531303.1:p.Leu448Trp
XM_005264439.4:c.2033T>G (TTC7A)	XP_005264496.1:p.Leu678Trp
XM_011532998.3:c.2033T>G (TTC7A)	XP_011531300.1:p.Leu678Trp
XM_011533000.3:c.1610T>G (TTC7A)	XP_011531302.1:p.Leu537Trp
XM_011533001.3:c.1343T>G (TTC7A)	XP_011531303.1:p.Leu448Trp
XM_017004524.1:c.2273T>G (TTC7A)	XP_016860013.1:p.Leu758Trp
XM_017004525.1:c.2222T>G (TTC7A)	XP_016860014.1:p.Leu741Trp
XM_017004526.1:c.2141T>G (TTC7A)	XP_016860015.1:p.Leu714Trp
XM_024453013.1:c.1355T>G (TTC7A)	XP_024308781.1:p.Leu452Trp
NM_020458.4:c.2390T>G (TTC7A) MANE Select	NP_065191.2:p.Leu797Trp
NM_001288951.2:c.2462T>G (TTC7A)	NP_001275880.1:p.Leu821Trp
NM_001288953.2:c.2288T>G (TTC7A)	NP_001275882.1:p.Leu763Trp
NM_001288955.2:c.1328T>G (TTC7A)	NP_001275884.1:p.Leu443Trp