Canonical Allele Identifier: CA1648003

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47051808A>G , CM000664.2:g.47051808A>G	GRCh38
NC_000002.11:g.47278947A>G , CM000664.1:g.47278947A>G	GRCh37
NC_000002.10:g.47132451A>G	NCBI36
NG_034143.1:g.140680A>G
NG_034143.2:g.140680A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.2080A>G (TTC7A) MANE Select	NP_065191.2:p.Met694Val
ENST00000319190.11:c.2080A>G (TTC7A) MANE Select	ENSP00000316699.5:p.Met694Val
NM_001288951.1:c.2152A>G (TTC7A)	NP_001275880.1:p.Met718Val
NM_001288951.2:c.2152A>G (TTC7A)	NP_001275880.1:p.Met718Val
NM_001288953.1:c.1978A>G (TTC7A)	NP_001275882.1:p.Met660Val
NM_001288953.2:c.1978A>G (TTC7A)	NP_001275882.1:p.Met660Val
NM_001288955.1:c.1018A>G (TTC7A)	NP_001275884.1:p.Met340Val
NM_001288955.2:c.1018A>G (TTC7A)	NP_001275884.1:p.Met340Val
NM_020458.3:c.2080A>G (TTC7A)	NP_065191.2:p.Met694Val
ENST00000319190.9:c.2080A>G (TTC7A)	ENSP00000316699.5:p.Met694Val
ENST00000394850.6:c.2152A>G (TTC7A)	ENSP00000378320.2:p.Met718Val
ENST00000409245.5:c.1978A>G (TTC7A)	ENSP00000386307.1:p.Met660Val
ENST00000409825.5:c.2028A>G (TTC7A)
ENST00000441914.5:c.1921A>G (TTC7A)
ENST00000484061.5:n.1187A>G (TTC7A)
ENST00000484337.5:n.493A>G (TTC7A)
ENST00000491786.5:n.1484A>G (TTC7A)
ENST00000496939.1:n.416-4889T>C (STPG4)
ENST00000651101.1:n.751-8961A>G (TTC7A)
ENST00000651415.1:n.871A>G (TTC7A)
ENST00000652236.1:n.781A>G (TTC7A)
ENST00000652568.1:n.753A>G (TTC7A)
ENST00000698500.1:n.3913A>G (TTC7A)
ENST00000698503.1:n.2086A>G (TTC7A)
ENST00000698504.1:n.286+1762A>G (TTC7A)
XM_005264439.2:c.1723A>G (TTC7A)	XP_005264496.1:p.Met575Val
XM_005264439.4:c.1723A>G (TTC7A)	XP_005264496.1:p.Met575Val
XM_011532998.1:c.1723A>G (TTC7A)	XP_011531300.1:p.Met575Val
XM_011532998.3:c.1723A>G (TTC7A)	XP_011531300.1:p.Met575Val
XM_011533000.1:c.1300A>G (TTC7A)	XP_011531302.1:p.Met434Val
XM_011533000.3:c.1300A>G (TTC7A)	XP_011531302.1:p.Met434Val
XM_011533001.1:c.1033A>G (TTC7A)	XP_011531303.1:p.Met345Val
XM_011533001.3:c.1033A>G (TTC7A)	XP_011531303.1:p.Met345Val
XM_017004524.1:c.1963A>G (TTC7A)	XP_016860013.1:p.Met655Val
XM_017004525.1:c.1912A>G (TTC7A)	XP_016860014.1:p.Met638Val
XM_017004526.1:c.1831A>G (TTC7A)	XP_016860015.1:p.Met611Val
XM_017004529.1:c.2080A>G (TTC7A)	XP_016860018.1:p.Met694Val
XM_024453013.1:c.1045A>G (TTC7A)	XP_024308781.1:p.Met349Val
XR_939696.1:n.2385A>G (TTC7A)