Canonical Allele Identifier: CA346718041

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300974A>C (hg19) ; chr2:g.47073835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073835A>C , CM000664.2:g.47073835A>C	GRCh38
NC_000002.11:g.47300974A>C , CM000664.1:g.47300974A>C	GRCh37
NC_000002.10:g.47154478A>C	NCBI36
NG_034143.1:g.162707A>C
NG_034143.2:g.162707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4322A>C (TTC7A)
ENST00000698503.1:n.2495A>C (TTC7A)
ENST00000319190.11:c.2489A>C (TTC7A) MANE Select	ENSP00000316699.5:p.Glu830Ala
ENST00000651101.1:n.1087A>C (TTC7A)
ENST00000651415.1:n.1280A>C (TTC7A)
ENST00000652236.1:n.1190A>C (TTC7A)
ENST00000652568.1:n.1162A>C (TTC7A)
ENST00000319190.9:c.2489A>C (TTC7A)	ENSP00000316699.5:p.Glu830Ala
ENST00000394850.6:c.2561A>C (TTC7A)	ENSP00000378320.2:p.Glu854Ala
ENST00000409245.5:c.2387A>C (TTC7A)	ENSP00000386307.1:p.Glu796Ala
ENST00000409825.5:c.2437A>C (TTC7A)
ENST00000422269.1:c.787-7698T>G
ENST00000441914.5:c.2330A>C (TTC7A)
ENST00000464527.2:n.399-7698T>G (STPG4)
ENST00000482548.1:n.402-5279T>G (STPG4)
ENST00000484061.5:n.1596A>C (TTC7A)
ENST00000491786.5:n.1893A>C (TTC7A)
ENST00000496939.1:n.416-26916T>G (STPG4)
NM_001288951.1:c.2561A>C (TTC7A)	NP_001275880.1:p.Glu854Ala
NM_001288953.1:c.2387A>C (TTC7A)	NP_001275882.1:p.Glu796Ala
NM_001288955.1:c.1427A>C (TTC7A)	NP_001275884.1:p.Glu476Ala
NM_020458.3:c.2489A>C (TTC7A)	NP_065191.2:p.Glu830Ala
XM_005264439.2:c.2132A>C (TTC7A)	XP_005264496.1:p.Glu711Ala
XM_011532998.1:c.2132A>C (TTC7A)	XP_011531300.1:p.Glu711Ala
XM_011533000.1:c.1709A>C (TTC7A)	XP_011531302.1:p.Glu570Ala
XM_011533001.1:c.1442A>C (TTC7A)	XP_011531303.1:p.Glu481Ala
XM_005264439.4:c.2132A>C (TTC7A)	XP_005264496.1:p.Glu711Ala
XM_011532998.3:c.2132A>C (TTC7A)	XP_011531300.1:p.Glu711Ala
XM_011533000.3:c.1709A>C (TTC7A)	XP_011531302.1:p.Glu570Ala
XM_011533001.3:c.1442A>C (TTC7A)	XP_011531303.1:p.Glu481Ala
XM_017004524.1:c.2372A>C (TTC7A)	XP_016860013.1:p.Glu791Ala
XM_017004525.1:c.2321A>C (TTC7A)	XP_016860014.1:p.Glu774Ala
XM_017004526.1:c.2240A>C (TTC7A)	XP_016860015.1:p.Glu747Ala
XM_024453013.1:c.1454A>C (TTC7A)	XP_024308781.1:p.Glu485Ala
NM_020458.4:c.2489A>C (TTC7A) MANE Select	NP_065191.2:p.Glu830Ala
NM_001288951.2:c.2561A>C (TTC7A)	NP_001275880.1:p.Glu854Ala
NM_001288953.2:c.2387A>C (TTC7A)	NP_001275882.1:p.Glu796Ala
NM_001288955.2:c.1427A>C (TTC7A)	NP_001275884.1:p.Glu476Ala