Canonical Allele Identifier: CA1647566

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47006650C>T , CM000664.2:g.47006650C>T	GRCh38
NC_000002.11:g.47233789C>T , CM000664.1:g.47233789C>T	GRCh37
NC_000002.10:g.47087293C>T	NCBI36
NG_034143.1:g.95522C>T
NG_034143.2:g.95522C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1213C>T MANE Select	NP_065191.2:p.Arg405Ter
ENST00000319190.11:c.1213C>T MANE Select	ENSP00000316699.5:p.Arg405Ter
NM_001288951.1:c.1213C>T	NP_001275880.1:p.Arg405Ter
NM_001288951.2:c.1213C>T	NP_001275880.1:p.Arg405Ter
NM_001288953.1:c.1111C>T	NP_001275882.1:p.Arg371Ter
NM_001288953.2:c.1111C>T	NP_001275882.1:p.Arg371Ter
NM_001288955.1:c.151C>T	NP_001275884.1:p.Arg51Ter
NM_001288955.2:c.151C>T	NP_001275884.1:p.Arg51Ter
NM_020458.3:c.1213C>T	NP_065191.2:p.Arg405Ter
ENST00000319190.9:c.1213C>T	ENSP00000316699.5:p.Arg405Ter
ENST00000394850.6:c.1213C>T	ENSP00000378320.2:p.Arg405Ter
ENST00000409245.5:c.1111C>T	ENSP00000386307.1:p.Arg371Ter
ENST00000409825.5:c.1161C>T
ENST00000440051.1:c.138C>T
ENST00000441914.5:c.1054C>T
ENST00000461601.5:n.1538C>T
ENST00000484061.5:n.496C>T
ENST00000491786.5:n.617C>T
ENST00000698500.1:n.3046C>T
XM_005264439.2:c.856C>T	XP_005264496.1:p.Arg286Ter
XM_005264439.4:c.856C>T	XP_005264496.1:p.Arg286Ter
XM_011532998.1:c.856C>T	XP_011531300.1:p.Arg286Ter
XM_011532998.3:c.856C>T	XP_011531300.1:p.Arg286Ter
XM_011532999.1:c.1213C>T	XP_011531301.1:p.Arg405Ter
XM_011532999.2:c.1213C>T	XP_011531301.1:p.Arg405Ter
XM_011533000.1:c.433C>T	XP_011531302.1:p.Arg145Ter
XM_011533000.3:c.433C>T	XP_011531302.1:p.Arg145Ter
XM_011533001.1:c.166C>T	XP_011531303.1:p.Arg56Ter
XM_011533001.3:c.166C>T	XP_011531303.1:p.Arg56Ter
XM_017004524.1:c.1213C>T	XP_016860013.1:p.Arg405Ter
XM_017004525.1:c.1045C>T	XP_016860014.1:p.Arg349Ter
XM_017004526.1:c.1213C>T	XP_016860015.1:p.Arg405Ter
XM_017004529.1:c.1213C>T	XP_016860018.1:p.Arg405Ter
XM_024453013.1:c.178C>T	XP_024308781.1:p.Arg60Ter
XR_001738853.2:n.1525C>T
XR_001738854.1:n.1524C>T
XR_939696.1:n.1518C>T