Canonical Allele Identifier: CA346714070

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47005928C>T , CM000664.2:g.47005928C>T	GRCh38
NC_000002.11:g.47233067C>T , CM000664.1:g.47233067C>T	GRCh37
NC_000002.10:g.47086571C>T	NCBI36
NG_034143.1:g.94800C>T
NG_034143.2:g.94800C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1072C>T MANE Select	NP_065191.2:p.Arg358Ter
ENST00000319190.11:c.1072C>T MANE Select	ENSP00000316699.5:p.Arg358Ter
NM_001288951.1:c.1072C>T	NP_001275880.1:p.Arg358Ter
NM_001288951.2:c.1072C>T	NP_001275880.1:p.Arg358Ter
NM_001288953.1:c.970C>T	NP_001275882.1:p.Arg324Ter
NM_001288953.2:c.970C>T	NP_001275882.1:p.Arg324Ter
NM_001288955.1:c.10C>T	NP_001275884.1:p.Arg4Ter
NM_001288955.2:c.10C>T	NP_001275884.1:p.Arg4Ter
NM_020458.3:c.1072C>T	NP_065191.2:p.Arg358Ter
ENST00000319190.9:c.1072C>T	ENSP00000316699.5:p.Arg358Ter
ENST00000394850.6:c.1072C>T	ENSP00000378320.2:p.Arg358Ter
ENST00000409245.5:c.970C>T	ENSP00000386307.1:p.Arg324Ter
ENST00000409825.5:c.1020C>T
ENST00000441914.5:c.913C>T
ENST00000461601.5:n.1397C>T
ENST00000474321.6:n.556C>T
ENST00000484061.5:n.355C>T
ENST00000491786.5:n.476C>T
ENST00000698500.1:n.2905C>T
XM_005264439.2:c.715C>T	XP_005264496.1:p.Arg239Ter
XM_005264439.4:c.715C>T	XP_005264496.1:p.Arg239Ter
XM_011532998.1:c.715C>T	XP_011531300.1:p.Arg239Ter
XM_011532998.3:c.715C>T	XP_011531300.1:p.Arg239Ter
XM_011532999.1:c.1072C>T	XP_011531301.1:p.Arg358Ter
XM_011532999.2:c.1072C>T	XP_011531301.1:p.Arg358Ter
XM_011533000.1:c.292C>T	XP_011531302.1:p.Arg98Ter
XM_011533000.3:c.292C>T	XP_011531302.1:p.Arg98Ter
XM_011533001.1:c.25C>T	XP_011531303.1:p.Arg9Ter
XM_011533001.3:c.25C>T	XP_011531303.1:p.Arg9Ter
XM_017004524.1:c.1072C>T	XP_016860013.1:p.Arg358Ter
XM_017004525.1:c.904C>T	XP_016860014.1:p.Arg302Ter
XM_017004526.1:c.1072C>T	XP_016860015.1:p.Arg358Ter
XM_017004529.1:c.1072C>T	XP_016860018.1:p.Arg358Ter
XM_024453013.1:c.37C>T	XP_024308781.1:p.Arg13Ter
XR_001738853.2:n.1384C>T
XR_001738854.1:n.1383C>T
XR_939696.1:n.1377C>T