Canonical Allele Identifier: CA346717489

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47073730-A-G
• MyVariant Identifiers: chr2:g.47300869A>G (hg19) ; chr2:g.47073730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073730A>G , CM000664.2:g.47073730A>G	GRCh38
NC_000002.11:g.47300869A>G , CM000664.1:g.47300869A>G	GRCh37
NC_000002.10:g.47154373A>G	NCBI36
NG_034143.1:g.162602A>G
NG_034143.2:g.162602A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4217A>G (TTC7A)
ENST00000698503.1:n.2390A>G (TTC7A)
ENST00000698504.1:n.465A>G (TTC7A)
ENST00000319190.11:c.2384A>G (TTC7A) MANE Select	ENSP00000316699.5:p.Lys795Arg
ENST00000651101.1:n.982A>G (TTC7A)
ENST00000651415.1:n.1175A>G (TTC7A)
ENST00000652236.1:n.1085A>G (TTC7A)
ENST00000652568.1:n.1057A>G (TTC7A)
ENST00000319190.9:c.2384A>G (TTC7A)	ENSP00000316699.5:p.Lys795Arg
ENST00000394850.6:c.2456A>G (TTC7A)	ENSP00000378320.2:p.Lys819Arg
ENST00000409245.5:c.2282A>G (TTC7A)	ENSP00000386307.1:p.Lys761Arg
ENST00000409825.5:c.2332A>G (TTC7A)
ENST00000422269.1:c.787-7593T>C
ENST00000441914.5:c.2225A>G (TTC7A)
ENST00000464527.2:n.399-7593T>C (STPG4)
ENST00000482548.1:n.402-5174T>C (STPG4)
ENST00000484061.5:n.1491A>G (TTC7A)
ENST00000491786.5:n.1788A>G (TTC7A)
ENST00000496939.1:n.416-26811T>C (STPG4)
NM_001288951.1:c.2456A>G (TTC7A)	NP_001275880.1:p.Lys819Arg
NM_001288953.1:c.2282A>G (TTC7A)	NP_001275882.1:p.Lys761Arg
NM_001288955.1:c.1322A>G (TTC7A)	NP_001275884.1:p.Lys441Arg
NM_020458.3:c.2384A>G (TTC7A)	NP_065191.2:p.Lys795Arg
XM_005264439.2:c.2027A>G (TTC7A)	XP_005264496.1:p.Lys676Arg
XM_011532998.1:c.2027A>G (TTC7A)	XP_011531300.1:p.Lys676Arg
XM_011533000.1:c.1604A>G (TTC7A)	XP_011531302.1:p.Lys535Arg
XM_011533001.1:c.1337A>G (TTC7A)	XP_011531303.1:p.Lys446Arg
XM_005264439.4:c.2027A>G (TTC7A)	XP_005264496.1:p.Lys676Arg
XM_011532998.3:c.2027A>G (TTC7A)	XP_011531300.1:p.Lys676Arg
XM_011533000.3:c.1604A>G (TTC7A)	XP_011531302.1:p.Lys535Arg
XM_011533001.3:c.1337A>G (TTC7A)	XP_011531303.1:p.Lys446Arg
XM_017004524.1:c.2267A>G (TTC7A)	XP_016860013.1:p.Lys756Arg
XM_017004525.1:c.2216A>G (TTC7A)	XP_016860014.1:p.Lys739Arg
XM_017004526.1:c.2135A>G (TTC7A)	XP_016860015.1:p.Lys712Arg
XM_024453013.1:c.1349A>G (TTC7A)	XP_024308781.1:p.Lys450Arg
NM_020458.4:c.2384A>G (TTC7A) MANE Select	NP_065191.2:p.Lys795Arg
NM_001288951.2:c.2456A>G (TTC7A)	NP_001275880.1:p.Lys819Arg
NM_001288953.2:c.2282A>G (TTC7A)	NP_001275882.1:p.Lys761Arg
NM_001288955.2:c.1322A>G (TTC7A)	NP_001275884.1:p.Lys441Arg