Canonical Allele Identifier: CA346716883

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950404C>T , CM000664.2:g.46950404C>T	GRCh38
NC_000002.11:g.47177543C>T , CM000664.1:g.47177543C>T	GRCh37
NC_000002.10:g.47031047C>T	NCBI36
NG_034143.1:g.39276C>T
NG_034143.2:g.39276C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.226C>T MANE Select	NP_065191.2:p.Gln76Ter
ENST00000319190.11:c.226C>T MANE Select	ENSP00000316699.5:p.Gln76Ter
NM_001288951.1:c.226C>T	NP_001275880.1:p.Gln76Ter
NM_001288951.2:c.226C>T	NP_001275880.1:p.Gln76Ter
NM_001288953.1:c.124C>T	NP_001275882.1:p.Gln42Ter
NM_001288953.2:c.124C>T	NP_001275882.1:p.Gln42Ter
NM_001288955.1:c.-679C>T	NP_001275884.1:n.-679C>T
NM_001288955.2:c.-679C>T	NP_001275884.1:n.-679C>T
NM_020458.3:c.226C>T	NP_065191.2:p.Gln76Ter
ENST00000319190.9:c.226C>T	ENSP00000316699.5:p.Gln76Ter
ENST00000394850.6:c.226C>T	ENSP00000378320.2:p.Gln76Ter
ENST00000409245.5:c.124C>T	ENSP00000386307.1:p.Gln42Ter
ENST00000441914.5:c.225C>T
ENST00000461601.5:n.493C>T
ENST00000698500.1:n.845C>T
ENST00000698501.1:n.547C>T
ENST00000698502.1:n.207C>T
XM_005264439.4:c.-190C>T	XP_005264496.1:n.-190C>T
XM_011532998.3:c.-255C>T	XP_011531300.1:n.-255C>T
XM_011532999.1:c.226C>T	XP_011531301.1:p.Gln76Ter
XM_011532999.2:c.226C>T	XP_011531301.1:p.Gln76Ter
XM_017004524.1:c.226C>T	XP_016860013.1:p.Gln76Ter
XM_017004525.1:c.58C>T	XP_016860014.1:p.Gln20Ter
XM_017004526.1:c.226C>T	XP_016860015.1:p.Gln76Ter
XM_017004529.1:c.226C>T	XP_016860018.1:p.Gln76Ter
XR_001738853.2:n.538C>T
XR_001738854.1:n.537C>T
XR_939696.1:n.531C>T