Canonical Allele Identifier: CA1647152

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46956917A>G , CM000664.2:g.46956917A>G	GRCh38
NC_000002.11:g.47184056A>G , CM000664.1:g.47184056A>G	GRCh37
NC_000002.10:g.47037560A>G	NCBI36
NG_034143.1:g.45789A>G
NG_034143.2:g.45789A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.427A>G MANE Select	NP_065191.2:p.Met143Val
ENST00000319190.11:c.427A>G MANE Select	ENSP00000316699.5:p.Met143Val
NM_001288951.1:c.427A>G	NP_001275880.1:p.Met143Val
NM_001288951.2:c.427A>G	NP_001275880.1:p.Met143Val
NM_001288953.1:c.325A>G	NP_001275882.1:p.Met109Val
NM_001288953.2:c.325A>G	NP_001275882.1:p.Met109Val
NM_001288955.1:c.-478A>G	NP_001275884.1:n.-478A>G
NM_001288955.2:c.-478A>G	NP_001275884.1:n.-478A>G
NM_020458.3:c.427A>G	NP_065191.2:p.Met143Val
ENST00000319190.9:c.427A>G	ENSP00000316699.5:p.Met143Val
ENST00000394850.6:c.427A>G	ENSP00000378320.2:p.Met143Val
ENST00000409245.5:c.325A>G	ENSP00000386307.1:p.Met109Val
ENST00000409825.5:c.317A>G
ENST00000441914.5:c.426A>G
ENST00000461601.5:n.694A>G
ENST00000698500.1:n.1374A>G
XM_005264439.2:c.12A>G	XP_005264496.1:p.Ala4=
XM_005264439.4:c.12A>G	XP_005264496.1:p.Ala4=
XM_011532998.1:c.12A>G	XP_011531300.1:p.Ala4=
XM_011532998.3:c.12A>G	XP_011531300.1:p.Ala4=
XM_011532999.1:c.427A>G	XP_011531301.1:p.Met143Val
XM_011532999.2:c.427A>G	XP_011531301.1:p.Met143Val
XM_017004524.1:c.427A>G	XP_016860013.1:p.Met143Val
XM_017004525.1:c.259A>G	XP_016860014.1:p.Met87Val
XM_017004526.1:c.427A>G	XP_016860015.1:p.Met143Val
XM_017004529.1:c.427A>G	XP_016860018.1:p.Met143Val
XR_001738853.2:n.739A>G
XR_001738854.1:n.738A>G
XR_939696.1:n.732A>G