Canonical Allele Identifier: CA346716211

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47023425C>T , CM000664.2:g.47023425C>T	GRCh38
NC_000002.11:g.47250564C>T , CM000664.1:g.47250564C>T	GRCh37
NC_000002.10:g.47104068C>T	NCBI36
NG_034143.1:g.112297C>T
NG_034143.2:g.112297C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1528C>T MANE Select	NP_065191.2:p.Gln510Ter
ENST00000319190.11:c.1528C>T MANE Select	ENSP00000316699.5:p.Gln510Ter
NM_001288951.1:c.1528C>T	NP_001275880.1:p.Gln510Ter
NM_001288951.2:c.1528C>T	NP_001275880.1:p.Gln510Ter
NM_001288953.1:c.1426C>T	NP_001275882.1:p.Gln476Ter
NM_001288953.2:c.1426C>T	NP_001275882.1:p.Gln476Ter
NM_001288955.1:c.466C>T	NP_001275884.1:p.Gln156Ter
NM_001288955.2:c.466C>T	NP_001275884.1:p.Gln156Ter
NM_020458.3:c.1528C>T	NP_065191.2:p.Gln510Ter
ENST00000319190.9:c.1528C>T	ENSP00000316699.5:p.Gln510Ter
ENST00000394850.6:c.1528C>T	ENSP00000378320.2:p.Gln510Ter
ENST00000409245.5:c.1426C>T	ENSP00000386307.1:p.Gln476Ter
ENST00000409825.5:c.1476C>T
ENST00000440051.1:c.335C>T
ENST00000441914.5:c.1369C>T
ENST00000461601.5:n.1853C>T
ENST00000484061.5:n.676-862C>T
ENST00000491786.5:n.932C>T
ENST00000651101.1:n.476C>T
ENST00000651415.1:n.319C>T
ENST00000652236.1:n.270-862C>T
ENST00000652568.1:n.201C>T
ENST00000698500.1:n.3361C>T
XM_005264439.2:c.1171C>T	XP_005264496.1:p.Gln391Ter
XM_005264439.4:c.1171C>T	XP_005264496.1:p.Gln391Ter
XM_011532998.1:c.1171C>T	XP_011531300.1:p.Gln391Ter
XM_011532998.3:c.1171C>T	XP_011531300.1:p.Gln391Ter
XM_011532999.1:c.1528C>T	XP_011531301.1:p.Gln510Ter
XM_011532999.2:c.1528C>T	XP_011531301.1:p.Gln510Ter
XM_011533000.1:c.748C>T	XP_011531302.1:p.Gln250Ter
XM_011533000.3:c.748C>T	XP_011531302.1:p.Gln250Ter
XM_011533001.1:c.481C>T	XP_011531303.1:p.Gln161Ter
XM_011533001.3:c.481C>T	XP_011531303.1:p.Gln161Ter
XM_017004524.1:c.1528C>T	XP_016860013.1:p.Gln510Ter
XM_017004525.1:c.1360C>T	XP_016860014.1:p.Gln454Ter
XM_017004526.1:c.1393-5799C>T	XP_016860015.1:n.1393-5799C>T
XM_017004529.1:c.1528C>T	XP_016860018.1:p.Gln510Ter
XM_024453013.1:c.493C>T	XP_024308781.1:p.Gln165Ter
XR_001738853.2:n.1840C>T
XR_001738854.1:n.1721C>T
XR_939696.1:n.1833C>T