Canonical Allele Identifier: CA1647497

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47005949G>A , CM000664.2:g.47005949G>A	GRCh38
NC_000002.11:g.47233088G>A , CM000664.1:g.47233088G>A	GRCh37
NC_000002.10:g.47086592G>A	NCBI36
NG_034143.1:g.94821G>A
NG_034143.2:g.94821G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1093G>A MANE Select	NP_065191.2:p.Val365Met
ENST00000319190.11:c.1093G>A MANE Select	ENSP00000316699.5:p.Val365Met
NM_001288951.1:c.1093G>A	NP_001275880.1:p.Val365Met
NM_001288951.2:c.1093G>A	NP_001275880.1:p.Val365Met
NM_001288953.1:c.991G>A	NP_001275882.1:p.Val331Met
NM_001288953.2:c.991G>A	NP_001275882.1:p.Val331Met
NM_001288955.1:c.31G>A	NP_001275884.1:p.Val11Met
NM_001288955.2:c.31G>A	NP_001275884.1:p.Val11Met
NM_020458.3:c.1093G>A	NP_065191.2:p.Val365Met
ENST00000319190.9:c.1093G>A	ENSP00000316699.5:p.Val365Met
ENST00000394850.6:c.1093G>A	ENSP00000378320.2:p.Val365Met
ENST00000409245.5:c.991G>A	ENSP00000386307.1:p.Val331Met
ENST00000409825.5:c.1041G>A
ENST00000440051.1:c.18G>A
ENST00000441914.5:c.934G>A
ENST00000461601.5:n.1418G>A
ENST00000474321.6:n.577G>A
ENST00000484061.5:n.376G>A
ENST00000491786.5:n.497G>A
ENST00000698500.1:n.2926G>A
XM_005264439.2:c.736G>A	XP_005264496.1:p.Val246Met
XM_005264439.4:c.736G>A	XP_005264496.1:p.Val246Met
XM_011532998.1:c.736G>A	XP_011531300.1:p.Val246Met
XM_011532998.3:c.736G>A	XP_011531300.1:p.Val246Met
XM_011532999.1:c.1093G>A	XP_011531301.1:p.Val365Met
XM_011532999.2:c.1093G>A	XP_011531301.1:p.Val365Met
XM_011533000.1:c.313G>A	XP_011531302.1:p.Val105Met
XM_011533000.3:c.313G>A	XP_011531302.1:p.Val105Met
XM_011533001.1:c.46G>A	XP_011531303.1:p.Val16Met
XM_011533001.3:c.46G>A	XP_011531303.1:p.Val16Met
XM_017004524.1:c.1093G>A	XP_016860013.1:p.Val365Met
XM_017004525.1:c.925G>A	XP_016860014.1:p.Val309Met
XM_017004526.1:c.1093G>A	XP_016860015.1:p.Val365Met
XM_017004529.1:c.1093G>A	XP_016860018.1:p.Val365Met
XM_024453013.1:c.58G>A	XP_024308781.1:p.Val20Met
XR_001738853.2:n.1405G>A
XR_001738854.1:n.1404G>A
XR_939696.1:n.1398G>A