Canonical Allele Identifier: CA346717370

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300855T>G (hg19) ; chr2:g.47073716T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073716T>G , CM000664.2:g.47073716T>G	GRCh38
NC_000002.11:g.47300855T>G , CM000664.1:g.47300855T>G	GRCh37
NC_000002.10:g.47154359T>G	NCBI36
NG_034143.1:g.162588T>G
NG_034143.2:g.162588T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4203T>G (TTC7A)
ENST00000698503.1:n.2376T>G (TTC7A)
ENST00000698504.1:n.451T>G (TTC7A)
ENST00000319190.11:c.2370T>G (TTC7A) MANE Select	ENSP00000316699.5:p.Ser790Arg
ENST00000651101.1:n.968T>G (TTC7A)
ENST00000651415.1:n.1161T>G (TTC7A)
ENST00000652236.1:n.1071T>G (TTC7A)
ENST00000652568.1:n.1043T>G (TTC7A)
ENST00000319190.9:c.2370T>G (TTC7A)	ENSP00000316699.5:p.Ser790Arg
ENST00000394850.6:c.2442T>G (TTC7A)	ENSP00000378320.2:p.Ser814Arg
ENST00000409245.5:c.2268T>G (TTC7A)	ENSP00000386307.1:p.Ser756Arg
ENST00000409825.5:c.2318T>G (TTC7A)
ENST00000422269.1:c.787-7579A>C
ENST00000441914.5:c.2211T>G (TTC7A)
ENST00000464527.2:n.399-7579A>C (STPG4)
ENST00000482548.1:n.402-5160A>C (STPG4)
ENST00000484061.5:n.1477T>G (TTC7A)
ENST00000491786.5:n.1774T>G (TTC7A)
ENST00000496939.1:n.416-26797A>C (STPG4)
NM_001288951.1:c.2442T>G (TTC7A)	NP_001275880.1:p.Ser814Arg
NM_001288953.1:c.2268T>G (TTC7A)	NP_001275882.1:p.Ser756Arg
NM_001288955.1:c.1308T>G (TTC7A)	NP_001275884.1:p.Ser436Arg
NM_020458.3:c.2370T>G (TTC7A)	NP_065191.2:p.Ser790Arg
XM_005264439.2:c.2013T>G (TTC7A)	XP_005264496.1:p.Ser671Arg
XM_011532998.1:c.2013T>G (TTC7A)	XP_011531300.1:p.Ser671Arg
XM_011533000.1:c.1590T>G (TTC7A)	XP_011531302.1:p.Ser530Arg
XM_011533001.1:c.1323T>G (TTC7A)	XP_011531303.1:p.Ser441Arg
XM_005264439.4:c.2013T>G (TTC7A)	XP_005264496.1:p.Ser671Arg
XM_011532998.3:c.2013T>G (TTC7A)	XP_011531300.1:p.Ser671Arg
XM_011533000.3:c.1590T>G (TTC7A)	XP_011531302.1:p.Ser530Arg
XM_011533001.3:c.1323T>G (TTC7A)	XP_011531303.1:p.Ser441Arg
XM_017004524.1:c.2253T>G (TTC7A)	XP_016860013.1:p.Ser751Arg
XM_017004525.1:c.2202T>G (TTC7A)	XP_016860014.1:p.Ser734Arg
XM_017004526.1:c.2121T>G (TTC7A)	XP_016860015.1:p.Ser707Arg
XM_024453013.1:c.1335T>G (TTC7A)	XP_024308781.1:p.Ser445Arg
NM_020458.4:c.2370T>G (TTC7A) MANE Select	NP_065191.2:p.Ser790Arg
NM_001288951.2:c.2442T>G (TTC7A)	NP_001275880.1:p.Ser814Arg
NM_001288953.2:c.2268T>G (TTC7A)	NP_001275882.1:p.Ser756Arg
NM_001288955.2:c.1308T>G (TTC7A)	NP_001275884.1:p.Ser436Arg