Canonical Allele Identifier: CA346714456

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47006687G>A , CM000664.2:g.47006687G>A	GRCh38
NC_000002.11:g.47233826G>A , CM000664.1:g.47233826G>A	GRCh37
NC_000002.10:g.47087330G>A	NCBI36
NG_034143.1:g.95559G>A
NG_034143.2:g.95559G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1250G>A MANE Select	NP_065191.2:p.Trp417Ter
ENST00000319190.11:c.1250G>A MANE Select	ENSP00000316699.5:p.Trp417Ter
NM_001288951.1:c.1250G>A	NP_001275880.1:p.Trp417Ter
NM_001288951.2:c.1250G>A	NP_001275880.1:p.Trp417Ter
NM_001288953.1:c.1148G>A	NP_001275882.1:p.Trp383Ter
NM_001288953.2:c.1148G>A	NP_001275882.1:p.Trp383Ter
NM_001288955.1:c.188G>A	NP_001275884.1:p.Trp63Ter
NM_001288955.2:c.188G>A	NP_001275884.1:p.Trp63Ter
NM_020458.3:c.1250G>A	NP_065191.2:p.Trp417Ter
ENST00000319190.9:c.1250G>A	ENSP00000316699.5:p.Trp417Ter
ENST00000394850.6:c.1250G>A	ENSP00000378320.2:p.Trp417Ter
ENST00000409245.5:c.1148G>A	ENSP00000386307.1:p.Trp383Ter
ENST00000409825.5:c.1198G>A
ENST00000440051.1:c.175G>A
ENST00000441914.5:c.1091G>A
ENST00000461601.5:n.1575G>A
ENST00000484061.5:n.533G>A
ENST00000491786.5:n.654G>A
ENST00000698500.1:n.3083G>A
XM_005264439.2:c.893G>A	XP_005264496.1:p.Trp298Ter
XM_005264439.4:c.893G>A	XP_005264496.1:p.Trp298Ter
XM_011532998.1:c.893G>A	XP_011531300.1:p.Trp298Ter
XM_011532998.3:c.893G>A	XP_011531300.1:p.Trp298Ter
XM_011532999.1:c.1250G>A	XP_011531301.1:p.Trp417Ter
XM_011532999.2:c.1250G>A	XP_011531301.1:p.Trp417Ter
XM_011533000.1:c.470G>A	XP_011531302.1:p.Trp157Ter
XM_011533000.3:c.470G>A	XP_011531302.1:p.Trp157Ter
XM_011533001.1:c.203G>A	XP_011531303.1:p.Trp68Ter
XM_011533001.3:c.203G>A	XP_011531303.1:p.Trp68Ter
XM_017004524.1:c.1250G>A	XP_016860013.1:p.Trp417Ter
XM_017004525.1:c.1082G>A	XP_016860014.1:p.Trp361Ter
XM_017004526.1:c.1250G>A	XP_016860015.1:p.Trp417Ter
XM_017004529.1:c.1250G>A	XP_016860018.1:p.Trp417Ter
XM_024453013.1:c.215G>A	XP_024308781.1:p.Trp72Ter
XR_001738853.2:n.1562G>A
XR_001738854.1:n.1561G>A
XR_939696.1:n.1555G>A