Canonical Allele Identifier: CA1647062

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950367C>G , CM000664.2:g.46950367C>G	GRCh38
NC_000002.11:g.47177506C>G , CM000664.1:g.47177506C>G	GRCh37
NC_000002.10:g.47031010C>G	NCBI36
NG_034143.1:g.39239C>G
NG_034143.2:g.39239C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.189C>G MANE Select	NP_065191.2:p.Asp63Glu
ENST00000319190.11:c.189C>G MANE Select	ENSP00000316699.5:p.Asp63Glu
NM_001288951.1:c.189C>G	NP_001275880.1:p.Asp63Glu
NM_001288951.2:c.189C>G	NP_001275880.1:p.Asp63Glu
NM_001288953.1:c.87C>G	NP_001275882.1:p.Asp29Glu
NM_001288953.2:c.87C>G	NP_001275882.1:p.Asp29Glu
NM_001288955.1:c.-716C>G	NP_001275884.1:n.-716C>G
NM_001288955.2:c.-716C>G	NP_001275884.1:n.-716C>G
NM_020458.3:c.189C>G	NP_065191.2:p.Asp63Glu
ENST00000319190.9:c.189C>G	ENSP00000316699.5:p.Asp63Glu
ENST00000394850.6:c.189C>G	ENSP00000378320.2:p.Asp63Glu
ENST00000409245.5:c.87C>G	ENSP00000386307.1:p.Asp29Glu
ENST00000441914.5:c.188C>G
ENST00000461601.5:n.456C>G
ENST00000698500.1:n.808C>G
ENST00000698501.1:n.510C>G
ENST00000698502.1:n.170C>G
XM_005264439.4:c.-227C>G	XP_005264496.1:n.-227C>G
XM_011532998.3:c.-292C>G	XP_011531300.1:n.-292C>G
XM_011532999.1:c.189C>G	XP_011531301.1:p.Asp63Glu
XM_011532999.2:c.189C>G	XP_011531301.1:p.Asp63Glu
XM_017004524.1:c.189C>G	XP_016860013.1:p.Asp63Glu
XM_017004525.1:c.21C>G	XP_016860014.1:p.Asp7Glu
XM_017004526.1:c.189C>G	XP_016860015.1:p.Asp63Glu
XM_017004529.1:c.189C>G	XP_016860018.1:p.Asp63Glu
XR_001738853.2:n.501C>G
XR_001738854.1:n.500C>G
XR_939696.1:n.494C>G