Canonical Allele Identifier: CA346717467

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300868A>T (hg19) ; chr2:g.47073729A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073729A>T , CM000664.2:g.47073729A>T	GRCh38
NC_000002.11:g.47300868A>T , CM000664.1:g.47300868A>T	GRCh37
NC_000002.10:g.47154372A>T	NCBI36
NG_034143.1:g.162601A>T
NG_034143.2:g.162601A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4216A>T (TTC7A)
ENST00000698503.1:n.2389A>T (TTC7A)
ENST00000698504.1:n.464A>T (TTC7A)
ENST00000319190.11:c.2383A>T (TTC7A) MANE Select	ENSP00000316699.5:p.Lys795Ter
ENST00000651101.1:n.981A>T (TTC7A)
ENST00000651415.1:n.1174A>T (TTC7A)
ENST00000652236.1:n.1084A>T (TTC7A)
ENST00000652568.1:n.1056A>T (TTC7A)
ENST00000319190.9:c.2383A>T (TTC7A)	ENSP00000316699.5:p.Lys795Ter
ENST00000394850.6:c.2455A>T (TTC7A)	ENSP00000378320.2:p.Lys819Ter
ENST00000409245.5:c.2281A>T (TTC7A)	ENSP00000386307.1:p.Lys761Ter
ENST00000409825.5:c.2331A>T (TTC7A)
ENST00000422269.1:c.787-7592T>A
ENST00000441914.5:c.2224A>T (TTC7A)
ENST00000464527.2:n.399-7592T>A (STPG4)
ENST00000482548.1:n.402-5173T>A (STPG4)
ENST00000484061.5:n.1490A>T (TTC7A)
ENST00000491786.5:n.1787A>T (TTC7A)
ENST00000496939.1:n.416-26810T>A (STPG4)
NM_001288951.1:c.2455A>T (TTC7A)	NP_001275880.1:p.Lys819Ter
NM_001288953.1:c.2281A>T (TTC7A)	NP_001275882.1:p.Lys761Ter
NM_001288955.1:c.1321A>T (TTC7A)	NP_001275884.1:p.Lys441Ter
NM_020458.3:c.2383A>T (TTC7A)	NP_065191.2:p.Lys795Ter
XM_005264439.2:c.2026A>T (TTC7A)	XP_005264496.1:p.Lys676Ter
XM_011532998.1:c.2026A>T (TTC7A)	XP_011531300.1:p.Lys676Ter
XM_011533000.1:c.1603A>T (TTC7A)	XP_011531302.1:p.Lys535Ter
XM_011533001.1:c.1336A>T (TTC7A)	XP_011531303.1:p.Lys446Ter
XM_005264439.4:c.2026A>T (TTC7A)	XP_005264496.1:p.Lys676Ter
XM_011532998.3:c.2026A>T (TTC7A)	XP_011531300.1:p.Lys676Ter
XM_011533000.3:c.1603A>T (TTC7A)	XP_011531302.1:p.Lys535Ter
XM_011533001.3:c.1336A>T (TTC7A)	XP_011531303.1:p.Lys446Ter
XM_017004524.1:c.2266A>T (TTC7A)	XP_016860013.1:p.Lys756Ter
XM_017004525.1:c.2215A>T (TTC7A)	XP_016860014.1:p.Lys739Ter
XM_017004526.1:c.2134A>T (TTC7A)	XP_016860015.1:p.Lys712Ter
XM_024453013.1:c.1348A>T (TTC7A)	XP_024308781.1:p.Lys450Ter
NM_020458.4:c.2383A>T (TTC7A) MANE Select	NP_065191.2:p.Lys795Ter
NM_001288951.2:c.2455A>T (TTC7A)	NP_001275880.1:p.Lys819Ter
NM_001288953.2:c.2281A>T (TTC7A)	NP_001275882.1:p.Lys761Ter
NM_001288955.2:c.1321A>T (TTC7A)	NP_001275884.1:p.Lys441Ter