Canonical Allele Identifier: CA46624929

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47011330G>T , CM000664.2:g.47011330G>T	GRCh38
NC_000002.11:g.47238469G>T , CM000664.1:g.47238469G>T	GRCh37
NC_000002.10:g.47091973G>T	NCBI36
NG_034143.1:g.100202G>T
NG_034143.2:g.100202G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1288-1G>T MANE Select	NP_065191.2:n.1288-1G>T
ENST00000319190.11:c.1288-1G>T MANE Select	ENSP00000316699.5:n.1288-1G>T
NM_001288951.1:c.1288-1G>T	NP_001275880.1:n.1288-1G>T
NM_001288951.2:c.1288-1G>T	NP_001275880.1:n.1288-1G>T
NM_001288953.1:c.1186-1G>T	NP_001275882.1:n.1186-1G>T
NM_001288953.2:c.1186-1G>T	NP_001275882.1:n.1186-1G>T
NM_001288955.1:c.226-1G>T	NP_001275884.1:n.226-1G>T
NM_001288955.2:c.226-1G>T	NP_001275884.1:n.226-1G>T
NM_020458.3:c.1288-1G>T	NP_065191.2:n.1288-1G>T
ENST00000319190.9:c.1288-1G>T	ENSP00000316699.5:n.1288-1G>T
ENST00000394850.6:c.1288-1G>T	ENSP00000378320.2:n.1288-1G>T
ENST00000409245.5:c.1186-1G>T	ENSP00000386307.1:n.1186-1G>T
ENST00000409825.5:c.1236-1G>T
ENST00000440051.1:c.213-1G>T
ENST00000441914.5:c.1129-1G>T
ENST00000461601.5:n.1613-1G>T
ENST00000484061.5:n.571-1G>T
ENST00000491786.5:n.692-1G>T
ENST00000651101.1:n.236-1G>T
ENST00000651415.1:n.79-1G>T
ENST00000652236.1:n.47-1G>T
ENST00000652568.1:n.79-1G>T
ENST00000698500.1:n.3121-1G>T
XM_005264439.2:c.931-1G>T	XP_005264496.1:n.931-1G>T
XM_005264439.4:c.931-1G>T	XP_005264496.1:n.931-1G>T
XM_011532998.1:c.931-1G>T	XP_011531300.1:n.931-1G>T
XM_011532998.3:c.931-1G>T	XP_011531300.1:n.931-1G>T
XM_011532999.1:c.1288-1G>T	XP_011531301.1:n.1288-1G>T
XM_011532999.2:c.1288-1G>T	XP_011531301.1:n.1288-1G>T
XM_011533000.1:c.508-1G>T	XP_011531302.1:n.508-1G>T
XM_011533000.3:c.508-1G>T	XP_011531302.1:n.508-1G>T
XM_011533001.1:c.241-1G>T	XP_011531303.1:n.241-1G>T
XM_011533001.3:c.241-1G>T	XP_011531303.1:n.241-1G>T
XM_017004524.1:c.1288-1G>T	XP_016860013.1:n.1288-1G>T
XM_017004525.1:c.1120-1G>T	XP_016860014.1:n.1120-1G>T
XM_017004526.1:c.1288-1G>T	XP_016860015.1:n.1288-1G>T
XM_017004529.1:c.1288-1G>T	XP_016860018.1:n.1288-1G>T
XM_024453013.1:c.253-1G>T	XP_024308781.1:n.253-1G>T
XR_001738853.2:n.1600-1G>T
XR_001738854.1:n.1599-1G>T
XR_939696.1:n.1593-1G>T