Canonical Allele Identifier: CA346717560

Gene: TTC7A STPG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4223T>A (TTC7A)
ENST00000698503.1:n.2396T>A (TTC7A)
ENST00000698504.1:n.471T>A (TTC7A)
ENST00000319190.11:c.2390T>A (TTC7A) MANE Select	ENSP00000316699.5:p.Leu797Ter
ENST00000651101.1:n.988T>A (TTC7A)
ENST00000651415.1:n.1181T>A (TTC7A)
ENST00000652236.1:n.1091T>A (TTC7A)
ENST00000652568.1:n.1063T>A (TTC7A)
ENST00000319190.9:c.2390T>A (TTC7A)	ENSP00000316699.5:p.Leu797Ter
ENST00000394850.6:c.2462T>A (TTC7A)	ENSP00000378320.2:p.Leu821Ter
ENST00000409245.5:c.2288T>A (TTC7A)	ENSP00000386307.1:p.Leu763Ter
ENST00000409825.5:c.2338T>A (TTC7A)
ENST00000422269.1:c.787-7599A>T
ENST00000441914.5:c.2231T>A (TTC7A)
ENST00000464527.2:n.399-7599A>T (STPG4)
ENST00000482548.1:n.402-5180A>T (STPG4)
ENST00000484061.5:n.1497T>A (TTC7A)
ENST00000491786.5:n.1794T>A (TTC7A)
ENST00000496939.1:n.416-26817A>T (STPG4)
NM_001288951.1:c.2462T>A (TTC7A)	NP_001275880.1:p.Leu821Ter
NM_001288953.1:c.2288T>A (TTC7A)	NP_001275882.1:p.Leu763Ter
NM_001288955.1:c.1328T>A (TTC7A)	NP_001275884.1:p.Leu443Ter
NM_020458.3:c.2390T>A (TTC7A)	NP_065191.2:p.Leu797Ter
XM_005264439.2:c.2033T>A (TTC7A)	XP_005264496.1:p.Leu678Ter
XM_011532998.1:c.2033T>A (TTC7A)	XP_011531300.1:p.Leu678Ter
XM_011533000.1:c.1610T>A (TTC7A)	XP_011531302.1:p.Leu537Ter
XM_011533001.1:c.1343T>A (TTC7A)	XP_011531303.1:p.Leu448Ter
XM_005264439.4:c.2033T>A (TTC7A)	XP_005264496.1:p.Leu678Ter
XM_011532998.3:c.2033T>A (TTC7A)	XP_011531300.1:p.Leu678Ter
XM_011533000.3:c.1610T>A (TTC7A)	XP_011531302.1:p.Leu537Ter
XM_011533001.3:c.1343T>A (TTC7A)	XP_011531303.1:p.Leu448Ter
XM_017004524.1:c.2273T>A (TTC7A)	XP_016860013.1:p.Leu758Ter
XM_017004525.1:c.2222T>A (TTC7A)	XP_016860014.1:p.Leu741Ter
XM_017004526.1:c.2141T>A (TTC7A)	XP_016860015.1:p.Leu714Ter
XM_024453013.1:c.1355T>A (TTC7A)	XP_024308781.1:p.Leu452Ter
NM_020458.4:c.2390T>A (TTC7A) MANE Select	NP_065191.2:p.Leu797Ter
NM_001288951.2:c.2462T>A (TTC7A)	NP_001275880.1:p.Leu821Ter
NM_001288953.2:c.2288T>A (TTC7A)	NP_001275882.1:p.Leu763Ter
NM_001288955.2:c.1328T>A (TTC7A)	NP_001275884.1:p.Leu443Ter