Canonical Allele Identifier: CA346718040

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300973G>T (hg19) ; chr2:g.47073834G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073834G>T , CM000664.2:g.47073834G>T	GRCh38
NC_000002.11:g.47300973G>T , CM000664.1:g.47300973G>T	GRCh37
NC_000002.10:g.47154477G>T	NCBI36
NG_034143.1:g.162706G>T
NG_034143.2:g.162706G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4321G>T (TTC7A)
ENST00000698503.1:n.2494G>T (TTC7A)
ENST00000319190.11:c.2488G>T (TTC7A) MANE Select	ENSP00000316699.5:p.Glu830Ter
ENST00000651101.1:n.1086G>T (TTC7A)
ENST00000651415.1:n.1279G>T (TTC7A)
ENST00000652236.1:n.1189G>T (TTC7A)
ENST00000652568.1:n.1161G>T (TTC7A)
ENST00000319190.9:c.2488G>T (TTC7A)	ENSP00000316699.5:p.Glu830Ter
ENST00000394850.6:c.2560G>T (TTC7A)	ENSP00000378320.2:p.Glu854Ter
ENST00000409245.5:c.2386G>T (TTC7A)	ENSP00000386307.1:p.Glu796Ter
ENST00000409825.5:c.2436G>T (TTC7A)
ENST00000422269.1:c.787-7697C>A
ENST00000441914.5:c.2329G>T (TTC7A)
ENST00000464527.2:n.399-7697C>A (STPG4)
ENST00000482548.1:n.402-5278C>A (STPG4)
ENST00000484061.5:n.1595G>T (TTC7A)
ENST00000491786.5:n.1892G>T (TTC7A)
ENST00000496939.1:n.416-26915C>A (STPG4)
NM_001288951.1:c.2560G>T (TTC7A)	NP_001275880.1:p.Glu854Ter
NM_001288953.1:c.2386G>T (TTC7A)	NP_001275882.1:p.Glu796Ter
NM_001288955.1:c.1426G>T (TTC7A)	NP_001275884.1:p.Glu476Ter
NM_020458.3:c.2488G>T (TTC7A)	NP_065191.2:p.Glu830Ter
XM_005264439.2:c.2131G>T (TTC7A)	XP_005264496.1:p.Glu711Ter
XM_011532998.1:c.2131G>T (TTC7A)	XP_011531300.1:p.Glu711Ter
XM_011533000.1:c.1708G>T (TTC7A)	XP_011531302.1:p.Glu570Ter
XM_011533001.1:c.1441G>T (TTC7A)	XP_011531303.1:p.Glu481Ter
XM_005264439.4:c.2131G>T (TTC7A)	XP_005264496.1:p.Glu711Ter
XM_011532998.3:c.2131G>T (TTC7A)	XP_011531300.1:p.Glu711Ter
XM_011533000.3:c.1708G>T (TTC7A)	XP_011531302.1:p.Glu570Ter
XM_011533001.3:c.1441G>T (TTC7A)	XP_011531303.1:p.Glu481Ter
XM_017004524.1:c.2371G>T (TTC7A)	XP_016860013.1:p.Glu791Ter
XM_017004525.1:c.2320G>T (TTC7A)	XP_016860014.1:p.Glu774Ter
XM_017004526.1:c.2239G>T (TTC7A)	XP_016860015.1:p.Glu747Ter
XM_024453013.1:c.1453G>T (TTC7A)	XP_024308781.1:p.Glu485Ter
NM_020458.4:c.2488G>T (TTC7A) MANE Select	NP_065191.2:p.Glu830Ter
NM_001288951.2:c.2560G>T (TTC7A)	NP_001275880.1:p.Glu854Ter
NM_001288953.2:c.2386G>T (TTC7A)	NP_001275882.1:p.Glu796Ter
NM_001288955.2:c.1426G>T (TTC7A)	NP_001275884.1:p.Glu476Ter