Canonical Allele Identifier: CA2495643996

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073834G= , CM000664.2:g.47073834G=	GRCh38
NC_000002.11:g.47300973G= , CM000664.1:g.47300973G=	GRCh37
NC_000002.10:g.47154477G=	NCBI36
NG_034143.1:g.162706G=
NG_034143.2:g.162706G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4321G= (TTC7A)
ENST00000698503.1:n.2494G= (TTC7A)
ENST00000319190.11:c.2488G= (TTC7A) MANE Select	ENSP00000316699.5:p.Glu830=
ENST00000651101.1:n.1086G= (TTC7A)
ENST00000651415.1:n.1279G= (TTC7A)
ENST00000652236.1:n.1189G= (TTC7A)
ENST00000652568.1:n.1161G= (TTC7A)
ENST00000319190.9:c.2488G= (TTC7A)	ENSP00000316699.5:p.Glu830=
ENST00000394850.6:c.2560G= (TTC7A)	ENSP00000378320.2:p.Glu854=
ENST00000409245.5:c.2386G= (TTC7A)	ENSP00000386307.1:p.Glu796=
ENST00000409825.5:c.2436G= (TTC7A)
ENST00000422269.1:c.787-7697C=
ENST00000441914.5:c.2329G= (TTC7A)
ENST00000464527.2:n.399-7697C= (STPG4)
ENST00000482548.1:n.402-5278C= (STPG4)
ENST00000484061.5:n.1595G= (TTC7A)
ENST00000491786.5:n.1892G= (TTC7A)
ENST00000496939.1:n.416-26915C= (STPG4)
NM_001288951.1:c.2560G= (TTC7A)	NP_001275880.1:p.Glu854=
NM_001288953.1:c.2386G= (TTC7A)	NP_001275882.1:p.Glu796=
NM_001288955.1:c.1426G= (TTC7A)	NP_001275884.1:p.Glu476=
NM_020458.3:c.2488G= (TTC7A)	NP_065191.2:p.Glu830=
XM_005264439.2:c.2131G= (TTC7A)	XP_005264496.1:p.Glu711=
XM_011532998.1:c.2131G= (TTC7A)	XP_011531300.1:p.Glu711=
XM_011533000.1:c.1708G= (TTC7A)	XP_011531302.1:p.Glu570=
XM_011533001.1:c.1441G= (TTC7A)	XP_011531303.1:p.Glu481=
XM_005264439.4:c.2131G= (TTC7A)	XP_005264496.1:p.Glu711=
XM_011532998.3:c.2131G= (TTC7A)	XP_011531300.1:p.Glu711=
XM_011533000.3:c.1708G= (TTC7A)	XP_011531302.1:p.Glu570=
XM_011533001.3:c.1441G= (TTC7A)	XP_011531303.1:p.Glu481=
XM_017004524.1:c.2371G= (TTC7A)	XP_016860013.1:p.Glu791=
XM_017004525.1:c.2320G= (TTC7A)	XP_016860014.1:p.Glu774=
XM_017004526.1:c.2239G= (TTC7A)	XP_016860015.1:p.Glu747=
XM_024453013.1:c.1453G= (TTC7A)	XP_024308781.1:p.Glu485=
NM_020458.4:c.2488G= (TTC7A) MANE Select	NP_065191.2:p.Glu830=
NM_001288951.2:c.2560G= (TTC7A)	NP_001275880.1:p.Glu854=
NM_001288953.2:c.2386G= (TTC7A)	NP_001275882.1:p.Glu796=
NM_001288955.2:c.1426G= (TTC7A)	NP_001275884.1:p.Glu476=