Canonical Allele Identifier: CA346717324

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950458A>T , CM000664.2:g.46950458A>T	GRCh38
NC_000002.11:g.47177597A>T , CM000664.1:g.47177597A>T	GRCh37
NC_000002.10:g.47031101A>T	NCBI36
NG_034143.1:g.39330A>T
NG_034143.2:g.39330A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.280A>T MANE Select	NP_065191.2:p.Lys94Ter
ENST00000319190.11:c.280A>T MANE Select	ENSP00000316699.5:p.Lys94Ter
NM_001288951.1:c.280A>T	NP_001275880.1:p.Lys94Ter
NM_001288951.2:c.280A>T	NP_001275880.1:p.Lys94Ter
NM_001288953.1:c.178A>T	NP_001275882.1:p.Lys60Ter
NM_001288953.2:c.178A>T	NP_001275882.1:p.Lys60Ter
NM_001288955.1:c.-625A>T	NP_001275884.1:n.-625A>T
NM_001288955.2:c.-625A>T	NP_001275884.1:n.-625A>T
NM_020458.3:c.280A>T	NP_065191.2:p.Lys94Ter
ENST00000319190.9:c.280A>T	ENSP00000316699.5:p.Lys94Ter
ENST00000394850.6:c.280A>T	ENSP00000378320.2:p.Lys94Ter
ENST00000409245.5:c.178A>T	ENSP00000386307.1:p.Lys60Ter
ENST00000409825.5:c.38A>T
ENST00000441914.5:c.279A>T
ENST00000461601.5:n.547A>T
ENST00000698500.1:n.899A>T
ENST00000698501.1:n.601A>T
ENST00000698502.1:n.261A>T
XM_005264439.2:c.-136A>T	XP_005264496.1:n.-136A>T
XM_005264439.4:c.-136A>T	XP_005264496.1:n.-136A>T
XM_011532998.1:c.-201A>T	XP_011531300.1:n.-201A>T
XM_011532998.3:c.-201A>T	XP_011531300.1:n.-201A>T
XM_011532999.1:c.280A>T	XP_011531301.1:p.Lys94Ter
XM_011532999.2:c.280A>T	XP_011531301.1:p.Lys94Ter
XM_017004524.1:c.280A>T	XP_016860013.1:p.Lys94Ter
XM_017004525.1:c.112A>T	XP_016860014.1:p.Lys38Ter
XM_017004526.1:c.280A>T	XP_016860015.1:p.Lys94Ter
XM_017004529.1:c.280A>T	XP_016860018.1:p.Lys94Ter
XR_001738853.2:n.592A>T
XR_001738854.1:n.591A>T
XR_939696.1:n.585A>T