Canonical Allele Identifier: CA46631715

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46978454C>A , CM000664.2:g.46978454C>A	GRCh38
NC_000002.11:g.47205593C>A , CM000664.1:g.47205593C>A	GRCh37
NC_000002.10:g.47059097C>A	NCBI36
NG_034143.1:g.67326C>A
NG_034143.2:g.67326C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.649-338C>A MANE Select	NP_065191.2:n.649-338C>A
ENST00000319190.11:c.649-338C>A MANE Select	ENSP00000316699.5:n.649-338C>A
NM_001288951.1:c.649-338C>A	NP_001275880.1:n.649-338C>A
NM_001288951.2:c.649-338C>A	NP_001275880.1:n.649-338C>A
NM_001288953.1:c.547-338C>A	NP_001275882.1:n.547-338C>A
NM_001288953.2:c.547-338C>A	NP_001275882.1:n.547-338C>A
NM_001288955.1:c.-256-338C>A	NP_001275884.1:n.-256-338C>A
NM_001288955.2:c.-256-338C>A	NP_001275884.1:n.-256-338C>A
NM_020458.3:c.649-338C>A	NP_065191.2:n.649-338C>A
ENST00000319190.9:c.649-338C>A	ENSP00000316699.5:n.649-338C>A
ENST00000394850.6:c.649-338C>A	ENSP00000378320.2:n.649-338C>A
ENST00000409245.5:c.547-338C>A	ENSP00000386307.1:n.547-338C>A
ENST00000409825.5:c.597-338C>A
ENST00000441914.5:c.648-338C>A
ENST00000461601.5:n.974-338C>A
ENST00000474321.6:n.132+205C>A
ENST00000698500.1:n.1654-338C>A
XM_005264439.2:c.292-338C>A	XP_005264496.1:n.292-338C>A
XM_005264439.4:c.292-338C>A	XP_005264496.1:n.292-338C>A
XM_011532998.1:c.292-338C>A	XP_011531300.1:n.292-338C>A
XM_011532998.3:c.292-338C>A	XP_011531300.1:n.292-338C>A
XM_011532999.1:c.649-338C>A	XP_011531301.1:n.649-338C>A
XM_011532999.2:c.649-338C>A	XP_011531301.1:n.649-338C>A
XM_011533000.1:c.-133+205C>A	XP_011531302.1:n.-133+205C>A
XM_011533000.3:c.-133+205C>A	XP_011531302.1:n.-133+205C>A
XM_017004524.1:c.649-338C>A	XP_016860013.1:n.649-338C>A
XM_017004525.1:c.481-338C>A	XP_016860014.1:n.481-338C>A
XM_017004526.1:c.649-338C>A	XP_016860015.1:n.649-338C>A
XM_017004529.1:c.649-338C>A	XP_016860018.1:n.649-338C>A
XR_001738853.2:n.961-338C>A
XR_001738854.1:n.960-338C>A
XR_939696.1:n.954-338C>A