Canonical Allele Identifier: CA346717439

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300866A>T (hg19) ; chr2:g.47073727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073727A>T , CM000664.2:g.47073727A>T	GRCh38
NC_000002.11:g.47300866A>T , CM000664.1:g.47300866A>T	GRCh37
NC_000002.10:g.47154370A>T	NCBI36
NG_034143.1:g.162599A>T
NG_034143.2:g.162599A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4214A>T (TTC7A)
ENST00000698503.1:n.2387A>T (TTC7A)
ENST00000698504.1:n.462A>T (TTC7A)
ENST00000319190.11:c.2381A>T (TTC7A) MANE Select	ENSP00000316699.5:p.His794Leu
ENST00000651101.1:n.979A>T (TTC7A)
ENST00000651415.1:n.1172A>T (TTC7A)
ENST00000652236.1:n.1082A>T (TTC7A)
ENST00000652568.1:n.1054A>T (TTC7A)
ENST00000319190.9:c.2381A>T (TTC7A)	ENSP00000316699.5:p.His794Leu
ENST00000394850.6:c.2453A>T (TTC7A)	ENSP00000378320.2:p.His818Leu
ENST00000409245.5:c.2279A>T (TTC7A)	ENSP00000386307.1:p.His760Leu
ENST00000409825.5:c.2329A>T (TTC7A)
ENST00000422269.1:c.787-7590T>A
ENST00000441914.5:c.2222A>T (TTC7A)
ENST00000464527.2:n.399-7590T>A (STPG4)
ENST00000482548.1:n.402-5171T>A (STPG4)
ENST00000484061.5:n.1488A>T (TTC7A)
ENST00000491786.5:n.1785A>T (TTC7A)
ENST00000496939.1:n.416-26808T>A (STPG4)
NM_001288951.1:c.2453A>T (TTC7A)	NP_001275880.1:p.His818Leu
NM_001288953.1:c.2279A>T (TTC7A)	NP_001275882.1:p.His760Leu
NM_001288955.1:c.1319A>T (TTC7A)	NP_001275884.1:p.His440Leu
NM_020458.3:c.2381A>T (TTC7A)	NP_065191.2:p.His794Leu
XM_005264439.2:c.2024A>T (TTC7A)	XP_005264496.1:p.His675Leu
XM_011532998.1:c.2024A>T (TTC7A)	XP_011531300.1:p.His675Leu
XM_011533000.1:c.1601A>T (TTC7A)	XP_011531302.1:p.His534Leu
XM_011533001.1:c.1334A>T (TTC7A)	XP_011531303.1:p.His445Leu
XM_005264439.4:c.2024A>T (TTC7A)	XP_005264496.1:p.His675Leu
XM_011532998.3:c.2024A>T (TTC7A)	XP_011531300.1:p.His675Leu
XM_011533000.3:c.1601A>T (TTC7A)	XP_011531302.1:p.His534Leu
XM_011533001.3:c.1334A>T (TTC7A)	XP_011531303.1:p.His445Leu
XM_017004524.1:c.2264A>T (TTC7A)	XP_016860013.1:p.His755Leu
XM_017004525.1:c.2213A>T (TTC7A)	XP_016860014.1:p.His738Leu
XM_017004526.1:c.2132A>T (TTC7A)	XP_016860015.1:p.His711Leu
XM_024453013.1:c.1346A>T (TTC7A)	XP_024308781.1:p.His449Leu
NM_020458.4:c.2381A>T (TTC7A) MANE Select	NP_065191.2:p.His794Leu
NM_001288951.2:c.2453A>T (TTC7A)	NP_001275880.1:p.His818Leu
NM_001288953.2:c.2279A>T (TTC7A)	NP_001275882.1:p.His760Leu
NM_001288955.2:c.1319A>T (TTC7A)	NP_001275884.1:p.His440Leu