Canonical Allele Identifier: CA1648074

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47060862A>G , CM000664.2:g.47060862A>G	GRCh38
NC_000002.11:g.47288001A>G , CM000664.1:g.47288001A>G	GRCh37
NC_000002.10:g.47141505A>G	NCBI36
NG_034143.1:g.149734A>G
NG_034143.2:g.149734A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.2246A>G (TTC7A) MANE Select	NP_065191.2:p.Tyr749Cys
ENST00000319190.11:c.2246A>G (TTC7A) MANE Select	ENSP00000316699.5:p.Tyr749Cys
NM_001288951.1:c.2318A>G (TTC7A)	NP_001275880.1:p.Tyr773Cys
NM_001288951.2:c.2318A>G (TTC7A)	NP_001275880.1:p.Tyr773Cys
NM_001288953.1:c.2144A>G (TTC7A)	NP_001275882.1:p.Tyr715Cys
NM_001288953.2:c.2144A>G (TTC7A)	NP_001275882.1:p.Tyr715Cys
NM_001288955.1:c.1184A>G (TTC7A)	NP_001275884.1:p.Tyr395Cys
NM_001288955.2:c.1184A>G (TTC7A)	NP_001275884.1:p.Tyr395Cys
NM_020458.3:c.2246A>G (TTC7A)	NP_065191.2:p.Tyr749Cys
ENST00000319190.9:c.2246A>G (TTC7A)	ENSP00000316699.5:p.Tyr749Cys
ENST00000394850.6:c.2318A>G (TTC7A)	ENSP00000378320.2:p.Tyr773Cys
ENST00000409245.5:c.2144A>G (TTC7A)	ENSP00000386307.1:p.Tyr715Cys
ENST00000409825.5:c.2194A>G (TTC7A)
ENST00000441914.5:c.2087A>G (TTC7A)
ENST00000484061.5:n.1353A>G (TTC7A)
ENST00000484337.5:n.659A>G (TTC7A)
ENST00000491786.5:n.1650A>G (TTC7A)
ENST00000496939.1:n.416-13943T>C (STPG4)
ENST00000651101.1:n.844A>G (TTC7A)
ENST00000651415.1:n.1037A>G (TTC7A)
ENST00000652236.1:n.947A>G (TTC7A)
ENST00000652568.1:n.919A>G (TTC7A)
ENST00000698500.1:n.4079A>G (TTC7A)
ENST00000698503.1:n.2252A>G (TTC7A)
ENST00000698504.1:n.327A>G (TTC7A)
XM_005264439.2:c.1889A>G (TTC7A)	XP_005264496.1:p.Tyr630Cys
XM_005264439.4:c.1889A>G (TTC7A)	XP_005264496.1:p.Tyr630Cys
XM_011532998.1:c.1889A>G (TTC7A)	XP_011531300.1:p.Tyr630Cys
XM_011532998.3:c.1889A>G (TTC7A)	XP_011531300.1:p.Tyr630Cys
XM_011533000.1:c.1466A>G (TTC7A)	XP_011531302.1:p.Tyr489Cys
XM_011533000.3:c.1466A>G (TTC7A)	XP_011531302.1:p.Tyr489Cys
XM_011533001.1:c.1199A>G (TTC7A)	XP_011531303.1:p.Tyr400Cys
XM_011533001.3:c.1199A>G (TTC7A)	XP_011531303.1:p.Tyr400Cys
XM_017004524.1:c.2129A>G (TTC7A)	XP_016860013.1:p.Tyr710Cys
XM_017004525.1:c.2078A>G (TTC7A)	XP_016860014.1:p.Tyr693Cys
XM_017004526.1:c.1997A>G (TTC7A)	XP_016860015.1:p.Tyr666Cys
XM_024453013.1:c.1211A>G (TTC7A)	XP_024308781.1:p.Tyr404Cys