Canonical Allele Identifier: CA346718000

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300955C>G (hg19) ; chr2:g.47073816C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073816C>G , CM000664.2:g.47073816C>G	GRCh38
NC_000002.11:g.47300955C>G , CM000664.1:g.47300955C>G	GRCh37
NC_000002.10:g.47154459C>G	NCBI36
NG_034143.1:g.162688C>G
NG_034143.2:g.162688C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4303C>G (TTC7A)
ENST00000698503.1:n.2476C>G (TTC7A)
ENST00000319190.11:c.2470C>G (TTC7A) MANE Select	ENSP00000316699.5:p.Gln824Glu
ENST00000651101.1:n.1068C>G (TTC7A)
ENST00000651415.1:n.1261C>G (TTC7A)
ENST00000652236.1:n.1171C>G (TTC7A)
ENST00000652568.1:n.1143C>G (TTC7A)
ENST00000319190.9:c.2470C>G (TTC7A)	ENSP00000316699.5:p.Gln824Glu
ENST00000394850.6:c.2542C>G (TTC7A)	ENSP00000378320.2:p.Gln848Glu
ENST00000409245.5:c.2368C>G (TTC7A)	ENSP00000386307.1:p.Gln790Glu
ENST00000409825.5:c.2418C>G (TTC7A)
ENST00000422269.1:c.787-7679G>C
ENST00000441914.5:c.2311C>G (TTC7A)
ENST00000464527.2:n.399-7679G>C (STPG4)
ENST00000482548.1:n.402-5260G>C (STPG4)
ENST00000484061.5:n.1577C>G (TTC7A)
ENST00000491786.5:n.1874C>G (TTC7A)
ENST00000496939.1:n.416-26897G>C (STPG4)
NM_001288951.1:c.2542C>G (TTC7A)	NP_001275880.1:p.Gln848Glu
NM_001288953.1:c.2368C>G (TTC7A)	NP_001275882.1:p.Gln790Glu
NM_001288955.1:c.1408C>G (TTC7A)	NP_001275884.1:p.Gln470Glu
NM_020458.3:c.2470C>G (TTC7A)	NP_065191.2:p.Gln824Glu
XM_005264439.2:c.2113C>G (TTC7A)	XP_005264496.1:p.Gln705Glu
XM_011532998.1:c.2113C>G (TTC7A)	XP_011531300.1:p.Gln705Glu
XM_011533000.1:c.1690C>G (TTC7A)	XP_011531302.1:p.Gln564Glu
XM_011533001.1:c.1423C>G (TTC7A)	XP_011531303.1:p.Gln475Glu
XM_005264439.4:c.2113C>G (TTC7A)	XP_005264496.1:p.Gln705Glu
XM_011532998.3:c.2113C>G (TTC7A)	XP_011531300.1:p.Gln705Glu
XM_011533000.3:c.1690C>G (TTC7A)	XP_011531302.1:p.Gln564Glu
XM_011533001.3:c.1423C>G (TTC7A)	XP_011531303.1:p.Gln475Glu
XM_017004524.1:c.2353C>G (TTC7A)	XP_016860013.1:p.Gln785Glu
XM_017004525.1:c.2302C>G (TTC7A)	XP_016860014.1:p.Gln768Glu
XM_017004526.1:c.2221C>G (TTC7A)	XP_016860015.1:p.Gln741Glu
XM_024453013.1:c.1435C>G (TTC7A)	XP_024308781.1:p.Gln479Glu
NM_020458.4:c.2470C>G (TTC7A) MANE Select	NP_065191.2:p.Gln824Glu
NM_001288951.2:c.2542C>G (TTC7A)	NP_001275880.1:p.Gln848Glu
NM_001288953.2:c.2368C>G (TTC7A)	NP_001275882.1:p.Gln790Glu
NM_001288955.2:c.1408C>G (TTC7A)	NP_001275884.1:p.Gln470Glu