Canonical Allele Identifier: CA1647844

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47029365G>T , CM000664.2:g.47029365G>T	GRCh38
NC_000002.11:g.47256504G>T , CM000664.1:g.47256504G>T	GRCh37
NC_000002.10:g.47110008G>T	NCBI36
NG_034143.1:g.118237G>T
NG_034143.2:g.118237G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1783G>T MANE Select	NP_065191.2:p.Glu595Ter
ENST00000319190.11:c.1783G>T MANE Select	ENSP00000316699.5:p.Glu595Ter
NM_001288951.1:c.1783G>T	NP_001275880.1:p.Glu595Ter
NM_001288951.2:c.1783G>T	NP_001275880.1:p.Glu595Ter
NM_001288953.1:c.1681G>T	NP_001275882.1:p.Glu561Ter
NM_001288953.2:c.1681G>T	NP_001275882.1:p.Glu561Ter
NM_001288955.1:c.721G>T	NP_001275884.1:p.Glu241Ter
NM_001288955.2:c.721G>T	NP_001275884.1:p.Glu241Ter
NM_020458.3:c.1783G>T	NP_065191.2:p.Glu595Ter
ENST00000319190.9:c.1783G>T	ENSP00000316699.5:p.Glu595Ter
ENST00000394850.6:c.1783G>T	ENSP00000378320.2:p.Glu595Ter
ENST00000409245.5:c.1681G>T	ENSP00000386307.1:p.Glu561Ter
ENST00000409825.5:c.1731G>T
ENST00000440051.1:c.590G>T
ENST00000441914.5:c.1624G>T
ENST00000461601.5:n.2108G>T
ENST00000484061.5:n.890G>T
ENST00000491786.5:n.1187G>T
ENST00000651101.1:n.731G>T
ENST00000651415.1:n.574G>T
ENST00000652236.1:n.484G>T
ENST00000652568.1:n.456G>T
ENST00000698500.1:n.3616G>T
ENST00000698503.1:n.1789G>T
ENST00000698504.1:n.52G>T
XM_005264439.2:c.1426G>T	XP_005264496.1:p.Glu476Ter
XM_005264439.4:c.1426G>T	XP_005264496.1:p.Glu476Ter
XM_011532998.1:c.1426G>T	XP_011531300.1:p.Glu476Ter
XM_011532998.3:c.1426G>T	XP_011531300.1:p.Glu476Ter
XM_011532999.1:c.1783G>T	XP_011531301.1:p.Glu595Ter
XM_011532999.2:c.1783G>T	XP_011531301.1:p.Glu595Ter
XM_011533000.1:c.1003G>T	XP_011531302.1:p.Glu335Ter
XM_011533000.3:c.1003G>T	XP_011531302.1:p.Glu335Ter
XM_011533001.1:c.736G>T	XP_011531303.1:p.Glu246Ter
XM_011533001.3:c.736G>T	XP_011531303.1:p.Glu246Ter
XM_017004524.1:c.1783G>T	XP_016860013.1:p.Glu595Ter
XM_017004525.1:c.1615G>T	XP_016860014.1:p.Glu539Ter
XM_017004526.1:c.1534G>T	XP_016860015.1:p.Glu512Ter
XM_017004529.1:c.1783G>T	XP_016860018.1:p.Glu595Ter
XM_024453013.1:c.748G>T	XP_024308781.1:p.Glu250Ter
XR_001738853.2:n.2095G>T
XR_001738854.1:n.1976G>T
XR_939696.1:n.2088G>T