Canonical Allele Identifier: CA346716031

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47021916G>C , CM000664.2:g.47021916G>C	GRCh38
NC_000002.11:g.47249055G>C , CM000664.1:g.47249055G>C	GRCh37
NC_000002.10:g.47102559G>C	NCBI36
NG_034143.1:g.110788G>C
NG_034143.2:g.110788G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1447G>C MANE Select	NP_065191.2:p.Gly483Arg
ENST00000319190.11:c.1447G>C MANE Select	ENSP00000316699.5:p.Gly483Arg
NM_001288951.1:c.1447G>C	NP_001275880.1:p.Gly483Arg
NM_001288951.2:c.1447G>C	NP_001275880.1:p.Gly483Arg
NM_001288953.1:c.1345G>C	NP_001275882.1:p.Gly449Arg
NM_001288953.2:c.1345G>C	NP_001275882.1:p.Gly449Arg
NM_001288955.1:c.385G>C	NP_001275884.1:p.Gly129Arg
NM_001288955.2:c.385G>C	NP_001275884.1:p.Gly129Arg
NM_020458.3:c.1447G>C	NP_065191.2:p.Gly483Arg
ENST00000319190.9:c.1447G>C	ENSP00000316699.5:p.Gly483Arg
ENST00000394850.6:c.1447G>C	ENSP00000378320.2:p.Gly483Arg
ENST00000409245.5:c.1345G>C	ENSP00000386307.1:p.Gly449Arg
ENST00000409825.5:c.1395G>C
ENST00000440051.1:c.318-1492G>C
ENST00000441914.5:c.1288G>C
ENST00000461601.5:n.1772G>C
ENST00000484061.5:n.676-2371G>C
ENST00000491786.5:n.851G>C
ENST00000651101.1:n.395G>C
ENST00000651415.1:n.238G>C
ENST00000652236.1:n.206G>C
ENST00000652568.1:n.184-1492G>C
ENST00000698500.1:n.3280G>C
XM_005264439.2:c.1090G>C	XP_005264496.1:p.Gly364Arg
XM_005264439.4:c.1090G>C	XP_005264496.1:p.Gly364Arg
XM_011532998.1:c.1090G>C	XP_011531300.1:p.Gly364Arg
XM_011532998.3:c.1090G>C	XP_011531300.1:p.Gly364Arg
XM_011532999.1:c.1447G>C	XP_011531301.1:p.Gly483Arg
XM_011532999.2:c.1447G>C	XP_011531301.1:p.Gly483Arg
XM_011533000.1:c.667G>C	XP_011531302.1:p.Gly223Arg
XM_011533000.3:c.667G>C	XP_011531302.1:p.Gly223Arg
XM_011533001.1:c.400G>C	XP_011531303.1:p.Gly134Arg
XM_011533001.3:c.400G>C	XP_011531303.1:p.Gly134Arg
XM_017004524.1:c.1447G>C	XP_016860013.1:p.Gly483Arg
XM_017004525.1:c.1279G>C	XP_016860014.1:p.Gly427Arg
XM_017004526.1:c.1393-7308G>C	XP_016860015.1:n.1393-7308G>C
XM_017004529.1:c.1447G>C	XP_016860018.1:p.Gly483Arg
XM_024453013.1:c.412G>C	XP_024308781.1:p.Gly138Arg
XR_001738853.2:n.1759G>C
XR_001738854.1:n.1704-1492G>C
XR_939696.1:n.1752G>C