Canonical Allele Identifier: CA1647487

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47005926C>G , CM000664.2:g.47005926C>G	GRCh38
NC_000002.11:g.47233065C>G , CM000664.1:g.47233065C>G	GRCh37
NC_000002.10:g.47086569C>G	NCBI36
NG_034143.1:g.94798C>G
NG_034143.2:g.94798C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1070C>G MANE Select	NP_065191.2:p.Thr357Ser
ENST00000319190.11:c.1070C>G MANE Select	ENSP00000316699.5:p.Thr357Ser
NM_001288951.1:c.1070C>G	NP_001275880.1:p.Thr357Ser
NM_001288951.2:c.1070C>G	NP_001275880.1:p.Thr357Ser
NM_001288953.1:c.968C>G	NP_001275882.1:p.Thr323Ser
NM_001288953.2:c.968C>G	NP_001275882.1:p.Thr323Ser
NM_001288955.1:c.8C>G	NP_001275884.1:p.Thr3Ser
NM_001288955.2:c.8C>G	NP_001275884.1:p.Thr3Ser
NM_020458.3:c.1070C>G	NP_065191.2:p.Thr357Ser
ENST00000319190.9:c.1070C>G	ENSP00000316699.5:p.Thr357Ser
ENST00000394850.6:c.1070C>G	ENSP00000378320.2:p.Thr357Ser
ENST00000409245.5:c.968C>G	ENSP00000386307.1:p.Thr323Ser
ENST00000409825.5:c.1018C>G
ENST00000441914.5:c.911C>G
ENST00000461601.5:n.1395C>G
ENST00000474321.6:n.554C>G
ENST00000484061.5:n.353C>G
ENST00000491786.5:n.474C>G
ENST00000698500.1:n.2903C>G
XM_005264439.2:c.713C>G	XP_005264496.1:p.Thr238Ser
XM_005264439.4:c.713C>G	XP_005264496.1:p.Thr238Ser
XM_011532998.1:c.713C>G	XP_011531300.1:p.Thr238Ser
XM_011532998.3:c.713C>G	XP_011531300.1:p.Thr238Ser
XM_011532999.1:c.1070C>G	XP_011531301.1:p.Thr357Ser
XM_011532999.2:c.1070C>G	XP_011531301.1:p.Thr357Ser
XM_011533000.1:c.290C>G	XP_011531302.1:p.Thr97Ser
XM_011533000.3:c.290C>G	XP_011531302.1:p.Thr97Ser
XM_011533001.1:c.23C>G	XP_011531303.1:p.Thr8Ser
XM_011533001.3:c.23C>G	XP_011531303.1:p.Thr8Ser
XM_017004524.1:c.1070C>G	XP_016860013.1:p.Thr357Ser
XM_017004525.1:c.902C>G	XP_016860014.1:p.Thr301Ser
XM_017004526.1:c.1070C>G	XP_016860015.1:p.Thr357Ser
XM_017004529.1:c.1070C>G	XP_016860018.1:p.Thr357Ser
XM_024453013.1:c.35C>G	XP_024308781.1:p.Thr12Ser
XR_001738853.2:n.1382C>G
XR_001738854.1:n.1381C>G
XR_939696.1:n.1375C>G