Canonical Allele Identifier: CA1647759

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47024321A>T , CM000664.2:g.47024321A>T	GRCh38
NC_000002.11:g.47251460A>T , CM000664.1:g.47251460A>T	GRCh37
NC_000002.10:g.47104964A>T	NCBI36
NG_034143.1:g.113193A>T
NG_034143.2:g.113193A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1603A>T MANE Select	NP_065191.2:p.Ile535Phe
ENST00000319190.11:c.1603A>T MANE Select	ENSP00000316699.5:p.Ile535Phe
NM_001288951.1:c.1603A>T	NP_001275880.1:p.Ile535Phe
NM_001288951.2:c.1603A>T	NP_001275880.1:p.Ile535Phe
NM_001288953.1:c.1501A>T	NP_001275882.1:p.Ile501Phe
NM_001288953.2:c.1501A>T	NP_001275882.1:p.Ile501Phe
NM_001288955.1:c.541A>T	NP_001275884.1:p.Ile181Phe
NM_001288955.2:c.541A>T	NP_001275884.1:p.Ile181Phe
NM_020458.3:c.1603A>T	NP_065191.2:p.Ile535Phe
ENST00000319190.9:c.1603A>T	ENSP00000316699.5:p.Ile535Phe
ENST00000394850.6:c.1603A>T	ENSP00000378320.2:p.Ile535Phe
ENST00000409245.5:c.1501A>T	ENSP00000386307.1:p.Ile501Phe
ENST00000409825.5:c.1551A>T
ENST00000440051.1:c.410A>T
ENST00000441914.5:c.1444A>T
ENST00000461601.5:n.1928A>T
ENST00000484061.5:n.710A>T
ENST00000491786.5:n.1007A>T
ENST00000651101.1:n.551A>T
ENST00000651415.1:n.394A>T
ENST00000652236.1:n.304A>T
ENST00000652568.1:n.276A>T
ENST00000698500.1:n.3436A>T
XM_005264439.2:c.1246A>T	XP_005264496.1:p.Ile416Phe
XM_005264439.4:c.1246A>T	XP_005264496.1:p.Ile416Phe
XM_011532998.1:c.1246A>T	XP_011531300.1:p.Ile416Phe
XM_011532998.3:c.1246A>T	XP_011531300.1:p.Ile416Phe
XM_011532999.1:c.1603A>T	XP_011531301.1:p.Ile535Phe
XM_011532999.2:c.1603A>T	XP_011531301.1:p.Ile535Phe
XM_011533000.1:c.823A>T	XP_011531302.1:p.Ile275Phe
XM_011533000.3:c.823A>T	XP_011531302.1:p.Ile275Phe
XM_011533001.1:c.556A>T	XP_011531303.1:p.Ile186Phe
XM_011533001.3:c.556A>T	XP_011531303.1:p.Ile186Phe
XM_017004524.1:c.1603A>T	XP_016860013.1:p.Ile535Phe
XM_017004525.1:c.1435A>T	XP_016860014.1:p.Ile479Phe
XM_017004526.1:c.1393-4903A>T	XP_016860015.1:n.1393-4903A>T
XM_017004529.1:c.1603A>T	XP_016860018.1:p.Ile535Phe
XM_024453013.1:c.568A>T	XP_024308781.1:p.Ile190Phe
XR_001738853.2:n.1915A>T
XR_001738854.1:n.1796A>T
XR_939696.1:n.1908A>T