Canonical Allele Identifier: CA1647333

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46978908G>T , CM000664.2:g.46978908G>T	GRCh38
NC_000002.11:g.47206047G>T , CM000664.1:g.47206047G>T	GRCh37
NC_000002.10:g.47059551G>T	NCBI36
NG_034143.1:g.67780G>T
NG_034143.2:g.67780G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.764+1G>T MANE Select	NP_065191.2:n.764+1G>T
ENST00000319190.11:c.764+1G>T MANE Select	ENSP00000316699.5:n.764+1G>T
NM_001288951.1:c.764+1G>T	NP_001275880.1:n.764+1G>T
NM_001288951.2:c.764+1G>T	NP_001275880.1:n.764+1G>T
NM_001288953.1:c.662+1G>T	NP_001275882.1:n.662+1G>T
NM_001288953.2:c.662+1G>T	NP_001275882.1:n.662+1G>T
NM_001288955.1:c.-141+1G>T	NP_001275884.1:n.-141+1G>T
NM_001288955.2:c.-141+1G>T	NP_001275884.1:n.-141+1G>T
NM_020458.3:c.764+1G>T	NP_065191.2:n.764+1G>T
ENST00000319190.9:c.764+1G>T	ENSP00000316699.5:n.764+1G>T
ENST00000394850.6:c.764+1G>T	ENSP00000378320.2:n.764+1G>T
ENST00000409245.5:c.662+1G>T	ENSP00000386307.1:n.662+1G>T
ENST00000409825.5:c.712+1G>T
ENST00000441914.5:c.763+1G>T
ENST00000461601.5:n.1089+1G>T
ENST00000474321.6:n.248+1G>T
ENST00000491786.5:n.168+1G>T
ENST00000698500.1:n.1769+1G>T
XM_005264439.2:c.407+1G>T	XP_005264496.1:n.407+1G>T
XM_005264439.4:c.407+1G>T	XP_005264496.1:n.407+1G>T
XM_011532998.1:c.407+1G>T	XP_011531300.1:n.407+1G>T
XM_011532998.3:c.407+1G>T	XP_011531300.1:n.407+1G>T
XM_011532999.1:c.764+1G>T	XP_011531301.1:n.764+1G>T
XM_011532999.2:c.764+1G>T	XP_011531301.1:n.764+1G>T
XM_011533000.1:c.-17+1G>T	XP_011531302.1:n.-17+1G>T
XM_011533000.3:c.-17+1G>T	XP_011531302.1:n.-17+1G>T
XM_017004524.1:c.764+1G>T	XP_016860013.1:n.764+1G>T
XM_017004525.1:c.596+1G>T	XP_016860014.1:n.596+1G>T
XM_017004526.1:c.764+1G>T	XP_016860015.1:n.764+1G>T
XM_017004529.1:c.764+1G>T	XP_016860018.1:n.764+1G>T
XR_001738853.2:n.1076+1G>T
XR_001738854.1:n.1075+1G>T
XR_939696.1:n.1069+1G>T