Canonical Allele Identifier: CA346716165

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47021981T>C , CM000664.2:g.47021981T>C	GRCh38
NC_000002.11:g.47249120T>C , CM000664.1:g.47249120T>C	GRCh37
NC_000002.10:g.47102624T>C	NCBI36
NG_034143.1:g.110853T>C
NG_034143.2:g.110853T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1510+2T>C MANE Select	NP_065191.2:n.1510+2T>C
ENST00000319190.11:c.1510+2T>C MANE Select	ENSP00000316699.5:n.1510+2T>C
NM_001288951.1:c.1510+2T>C	NP_001275880.1:n.1510+2T>C
NM_001288951.2:c.1510+2T>C	NP_001275880.1:n.1510+2T>C
NM_001288953.1:c.1408+2T>C	NP_001275882.1:n.1408+2T>C
NM_001288953.2:c.1408+2T>C	NP_001275882.1:n.1408+2T>C
NM_001288955.1:c.448+2T>C	NP_001275884.1:n.448+2T>C
NM_001288955.2:c.448+2T>C	NP_001275884.1:n.448+2T>C
NM_020458.3:c.1510+2T>C	NP_065191.2:n.1510+2T>C
ENST00000319190.9:c.1510+2T>C	ENSP00000316699.5:n.1510+2T>C
ENST00000394850.6:c.1510+2T>C	ENSP00000378320.2:n.1510+2T>C
ENST00000409245.5:c.1408+2T>C	ENSP00000386307.1:n.1408+2T>C
ENST00000409825.5:c.1458+2T>C
ENST00000440051.1:c.318-1427T>C
ENST00000441914.5:c.1351+2T>C
ENST00000461601.5:n.1835+2T>C
ENST00000484061.5:n.676-2306T>C
ENST00000491786.5:n.914+2T>C
ENST00000651101.1:n.458+2T>C
ENST00000651415.1:n.301+2T>C
ENST00000652236.1:n.269+2T>C
ENST00000652568.1:n.184-1427T>C
ENST00000698500.1:n.3343+2T>C
XM_005264439.2:c.1153+2T>C	XP_005264496.1:n.1153+2T>C
XM_005264439.4:c.1153+2T>C	XP_005264496.1:n.1153+2T>C
XM_011532998.1:c.1153+2T>C	XP_011531300.1:n.1153+2T>C
XM_011532998.3:c.1153+2T>C	XP_011531300.1:n.1153+2T>C
XM_011532999.1:c.1510+2T>C	XP_011531301.1:n.1510+2T>C
XM_011532999.2:c.1510+2T>C	XP_011531301.1:n.1510+2T>C
XM_011533000.1:c.730+2T>C	XP_011531302.1:n.730+2T>C
XM_011533000.3:c.730+2T>C	XP_011531302.1:n.730+2T>C
XM_011533001.1:c.463+2T>C	XP_011531303.1:n.463+2T>C
XM_011533001.3:c.463+2T>C	XP_011531303.1:n.463+2T>C
XM_017004524.1:c.1510+2T>C	XP_016860013.1:n.1510+2T>C
XM_017004525.1:c.1342+2T>C	XP_016860014.1:n.1342+2T>C
XM_017004526.1:c.1393-7243T>C	XP_016860015.1:n.1393-7243T>C
XM_017004529.1:c.1510+2T>C	XP_016860018.1:n.1510+2T>C
XM_024453013.1:c.475+2T>C	XP_024308781.1:n.475+2T>C
XR_001738853.2:n.1822+2T>C
XR_001738854.1:n.1704-1427T>C
XR_939696.1:n.1815+2T>C