Canonical Allele Identifier: CA1647753

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47024288G>T , CM000664.2:g.47024288G>T	GRCh38
NC_000002.11:g.47251427G>T , CM000664.1:g.47251427G>T	GRCh37
NC_000002.10:g.47104931G>T	NCBI36
NG_034143.1:g.113160G>T
NG_034143.2:g.113160G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1570G>T MANE Select	NP_065191.2:p.Ala524Ser
ENST00000319190.11:c.1570G>T MANE Select	ENSP00000316699.5:p.Ala524Ser
NM_001288951.1:c.1570G>T	NP_001275880.1:p.Ala524Ser
NM_001288951.2:c.1570G>T	NP_001275880.1:p.Ala524Ser
NM_001288953.1:c.1468G>T	NP_001275882.1:p.Ala490Ser
NM_001288953.2:c.1468G>T	NP_001275882.1:p.Ala490Ser
NM_001288955.1:c.508G>T	NP_001275884.1:p.Ala170Ser
NM_001288955.2:c.508G>T	NP_001275884.1:p.Ala170Ser
NM_020458.3:c.1570G>T	NP_065191.2:p.Ala524Ser
ENST00000319190.9:c.1570G>T	ENSP00000316699.5:p.Ala524Ser
ENST00000394850.6:c.1570G>T	ENSP00000378320.2:p.Ala524Ser
ENST00000409245.5:c.1468G>T	ENSP00000386307.1:p.Ala490Ser
ENST00000409825.5:c.1518G>T
ENST00000440051.1:c.377G>T
ENST00000441914.5:c.1411G>T
ENST00000461601.5:n.1895G>T
ENST00000484061.5:n.677G>T
ENST00000491786.5:n.974G>T
ENST00000651101.1:n.518G>T
ENST00000651415.1:n.361G>T
ENST00000652236.1:n.271G>T
ENST00000652568.1:n.243G>T
ENST00000698500.1:n.3403G>T
XM_005264439.2:c.1213G>T	XP_005264496.1:p.Ala405Ser
XM_005264439.4:c.1213G>T	XP_005264496.1:p.Ala405Ser
XM_011532998.1:c.1213G>T	XP_011531300.1:p.Ala405Ser
XM_011532998.3:c.1213G>T	XP_011531300.1:p.Ala405Ser
XM_011532999.1:c.1570G>T	XP_011531301.1:p.Ala524Ser
XM_011532999.2:c.1570G>T	XP_011531301.1:p.Ala524Ser
XM_011533000.1:c.790G>T	XP_011531302.1:p.Ala264Ser
XM_011533000.3:c.790G>T	XP_011531302.1:p.Ala264Ser
XM_011533001.1:c.523G>T	XP_011531303.1:p.Ala175Ser
XM_011533001.3:c.523G>T	XP_011531303.1:p.Ala175Ser
XM_017004524.1:c.1570G>T	XP_016860013.1:p.Ala524Ser
XM_017004525.1:c.1402G>T	XP_016860014.1:p.Ala468Ser
XM_017004526.1:c.1393-4936G>T	XP_016860015.1:n.1393-4936G>T
XM_017004529.1:c.1570G>T	XP_016860018.1:p.Ala524Ser
XM_024453013.1:c.535G>T	XP_024308781.1:p.Ala179Ser
XR_001738853.2:n.1882G>T
XR_001738854.1:n.1763G>T
XR_939696.1:n.1875G>T