Canonical Allele Identifier: CA346719990

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47046432G>C , CM000664.2:g.47046432G>C	GRCh38
NC_000002.11:g.47273571G>C , CM000664.1:g.47273571G>C	GRCh37
NC_000002.10:g.47127075G>C	NCBI36
NG_034143.1:g.135304G>C
NG_034143.2:g.135304G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1919+1G>C (TTC7A) MANE Select	NP_065191.2:n.1919+1G>C
ENST00000319190.11:c.1919+1G>C (TTC7A) MANE Select	ENSP00000316699.5:n.1919+1G>C
NM_001288951.1:c.1919+1G>C (TTC7A)	NP_001275880.1:n.1919+1G>C
NM_001288951.2:c.1919+1G>C (TTC7A)	NP_001275880.1:n.1919+1G>C
NM_001288953.1:c.1817+1G>C (TTC7A)	NP_001275882.1:n.1817+1G>C
NM_001288953.2:c.1817+1G>C (TTC7A)	NP_001275882.1:n.1817+1G>C
NM_001288955.1:c.857+1G>C (TTC7A)	NP_001275884.1:n.857+1G>C
NM_001288955.2:c.857+1G>C (TTC7A)	NP_001275884.1:n.857+1G>C
NM_020458.3:c.1919+1G>C (TTC7A)	NP_065191.2:n.1919+1G>C
ENST00000319190.9:c.1919+1G>C (TTC7A)	ENSP00000316699.5:n.1919+1G>C
ENST00000394850.6:c.1919+1G>C (TTC7A)	ENSP00000378320.2:n.1919+1G>C
ENST00000409245.5:c.1817+1G>C (TTC7A)	ENSP00000386307.1:n.1817+1G>C
ENST00000409825.5:c.1867+1G>C (TTC7A)
ENST00000440051.1:c.610-3517G>C (TTC7A)
ENST00000441914.5:c.1760+1G>C (TTC7A)
ENST00000461601.5:n.2128-3517G>C (TTC7A)
ENST00000484061.5:n.1026+1G>C (TTC7A)
ENST00000484337.5:n.332+1G>C (TTC7A)
ENST00000491786.5:n.1323+1G>C (TTC7A)
ENST00000496939.1:n.518+385C>G (STPG4)
ENST00000496991.3:n.117+1G>C (TTC7A)
ENST00000651101.1:n.751-14337G>C (TTC7A)
ENST00000651415.1:n.710+1G>C (TTC7A)
ENST00000652236.1:n.620+1G>C (TTC7A)
ENST00000652568.1:n.592+1G>C (TTC7A)
ENST00000698500.1:n.3752+1G>C (TTC7A)
ENST00000698503.1:n.1925+1G>C (TTC7A)
ENST00000698504.1:n.188+1G>C (TTC7A)
XM_005264439.2:c.1562+1G>C (TTC7A)	XP_005264496.1:n.1562+1G>C
XM_005264439.4:c.1562+1G>C (TTC7A)	XP_005264496.1:n.1562+1G>C
XM_011532998.1:c.1562+1G>C (TTC7A)	XP_011531300.1:n.1562+1G>C
XM_011532998.3:c.1562+1G>C (TTC7A)	XP_011531300.1:n.1562+1G>C
XM_011532999.1:c.1919+1G>C (TTC7A)	XP_011531301.1:n.1919+1G>C
XM_011532999.2:c.1919+1G>C (TTC7A)	XP_011531301.1:n.1919+1G>C
XM_011533000.1:c.1139+1G>C (TTC7A)	XP_011531302.1:n.1139+1G>C
XM_011533000.3:c.1139+1G>C (TTC7A)	XP_011531302.1:n.1139+1G>C
XM_011533001.1:c.872+1G>C (TTC7A)	XP_011531303.1:n.872+1G>C
XM_011533001.3:c.872+1G>C (TTC7A)	XP_011531303.1:n.872+1G>C
XM_017004524.1:c.1803-3517G>C (TTC7A)	XP_016860013.1:n.1803-3517G>C
XM_017004525.1:c.1751+1G>C (TTC7A)	XP_016860014.1:n.1751+1G>C
XM_017004526.1:c.1670+1G>C (TTC7A)	XP_016860015.1:n.1670+1G>C
XM_017004529.1:c.1919+1G>C (TTC7A)	XP_016860018.1:n.1919+1G>C
XM_024453013.1:c.884+1G>C (TTC7A)	XP_024308781.1:n.884+1G>C
XR_001738853.2:n.2304+1G>C (TTC7A)
XR_001738854.1:n.1996-3517G>C (TTC7A)
XR_939696.1:n.2224+1G>C (TTC7A)