Canonical Allele Identifier: CA2495644014

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073862C= , CM000664.2:g.47073862C=	GRCh38
NC_000002.11:g.47301001C= , CM000664.1:g.47301001C=	GRCh37
NC_000002.10:g.47154505C=	NCBI36
NG_034143.1:g.162734C=
NG_034143.2:g.162734C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4349C= (TTC7A)
ENST00000698503.1:n.2522C= (TTC7A)
ENST00000319190.11:c.2516C= (TTC7A) MANE Select	ENSP00000316699.5:p.Ala839=
ENST00000651101.1:n.1114C= (TTC7A)
ENST00000651415.1:n.1307C= (TTC7A)
ENST00000652236.1:n.1217C= (TTC7A)
ENST00000652568.1:n.1189C= (TTC7A)
ENST00000319190.9:c.2516C= (TTC7A)	ENSP00000316699.5:p.Ala839=
ENST00000394850.6:c.2588C= (TTC7A)	ENSP00000378320.2:p.Ala863=
ENST00000409245.5:c.2414C= (TTC7A)	ENSP00000386307.1:p.Ala805=
ENST00000409825.5:c.2464C= (TTC7A)
ENST00000422269.1:c.787-7725G=
ENST00000441914.5:c.2357C= (TTC7A)
ENST00000464527.2:n.399-7725G= (STPG4)
ENST00000482548.1:n.402-5306G= (STPG4)
ENST00000484061.5:n.1623C= (TTC7A)
ENST00000491786.5:n.1920C= (TTC7A)
ENST00000496939.1:n.416-26943G= (STPG4)
NM_001288951.1:c.2588C= (TTC7A)	NP_001275880.1:p.Ala863=
NM_001288953.1:c.2414C= (TTC7A)	NP_001275882.1:p.Ala805=
NM_001288955.1:c.1454C= (TTC7A)	NP_001275884.1:p.Ala485=
NM_020458.3:c.2516C= (TTC7A)	NP_065191.2:p.Ala839=
XM_005264439.2:c.2159C= (TTC7A)	XP_005264496.1:p.Ala720=
XM_011532998.1:c.2159C= (TTC7A)	XP_011531300.1:p.Ala720=
XM_011533000.1:c.1736C= (TTC7A)	XP_011531302.1:p.Ala579=
XM_011533001.1:c.1469C= (TTC7A)	XP_011531303.1:p.Ala490=
XM_005264439.4:c.2159C= (TTC7A)	XP_005264496.1:p.Ala720=
XM_011532998.3:c.2159C= (TTC7A)	XP_011531300.1:p.Ala720=
XM_011533000.3:c.1736C= (TTC7A)	XP_011531302.1:p.Ala579=
XM_011533001.3:c.1469C= (TTC7A)	XP_011531303.1:p.Ala490=
XM_017004524.1:c.2399C= (TTC7A)	XP_016860013.1:p.Ala800=
XM_017004525.1:c.2348C= (TTC7A)	XP_016860014.1:p.Ala783=
XM_017004526.1:c.2267C= (TTC7A)	XP_016860015.1:p.Ala756=
XM_024453013.1:c.1481C= (TTC7A)	XP_024308781.1:p.Ala494=
NM_020458.4:c.2516C= (TTC7A) MANE Select	NP_065191.2:p.Ala839=
NM_001288951.2:c.2588C= (TTC7A)	NP_001275880.1:p.Ala863=
NM_001288953.2:c.2414C= (TTC7A)	NP_001275882.1:p.Ala805=
NM_001288955.2:c.1454C= (TTC7A)	NP_001275884.1:p.Ala485=