Canonical Allele Identifier: CA346717423

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300863G>C (hg19) ; chr2:g.47073724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073724G>C , CM000664.2:g.47073724G>C	GRCh38
NC_000002.11:g.47300863G>C , CM000664.1:g.47300863G>C	GRCh37
NC_000002.10:g.47154367G>C	NCBI36
NG_034143.1:g.162596G>C
NG_034143.2:g.162596G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4211G>C (TTC7A)
ENST00000698503.1:n.2384G>C (TTC7A)
ENST00000698504.1:n.459G>C (TTC7A)
ENST00000319190.11:c.2378G>C (TTC7A) MANE Select	ENSP00000316699.5:p.Gly793Ala
ENST00000651101.1:n.976G>C (TTC7A)
ENST00000651415.1:n.1169G>C (TTC7A)
ENST00000652236.1:n.1079G>C (TTC7A)
ENST00000652568.1:n.1051G>C (TTC7A)
ENST00000319190.9:c.2378G>C (TTC7A)	ENSP00000316699.5:p.Gly793Ala
ENST00000394850.6:c.2450G>C (TTC7A)	ENSP00000378320.2:p.Gly817Ala
ENST00000409245.5:c.2276G>C (TTC7A)	ENSP00000386307.1:p.Gly759Ala
ENST00000409825.5:c.2326G>C (TTC7A)
ENST00000422269.1:c.787-7587C>G
ENST00000441914.5:c.2219G>C (TTC7A)
ENST00000464527.2:n.399-7587C>G (STPG4)
ENST00000482548.1:n.402-5168C>G (STPG4)
ENST00000484061.5:n.1485G>C (TTC7A)
ENST00000491786.5:n.1782G>C (TTC7A)
ENST00000496939.1:n.416-26805C>G (STPG4)
NM_001288951.1:c.2450G>C (TTC7A)	NP_001275880.1:p.Gly817Ala
NM_001288953.1:c.2276G>C (TTC7A)	NP_001275882.1:p.Gly759Ala
NM_001288955.1:c.1316G>C (TTC7A)	NP_001275884.1:p.Gly439Ala
NM_020458.3:c.2378G>C (TTC7A)	NP_065191.2:p.Gly793Ala
XM_005264439.2:c.2021G>C (TTC7A)	XP_005264496.1:p.Gly674Ala
XM_011532998.1:c.2021G>C (TTC7A)	XP_011531300.1:p.Gly674Ala
XM_011533000.1:c.1598G>C (TTC7A)	XP_011531302.1:p.Gly533Ala
XM_011533001.1:c.1331G>C (TTC7A)	XP_011531303.1:p.Gly444Ala
XM_005264439.4:c.2021G>C (TTC7A)	XP_005264496.1:p.Gly674Ala
XM_011532998.3:c.2021G>C (TTC7A)	XP_011531300.1:p.Gly674Ala
XM_011533000.3:c.1598G>C (TTC7A)	XP_011531302.1:p.Gly533Ala
XM_011533001.3:c.1331G>C (TTC7A)	XP_011531303.1:p.Gly444Ala
XM_017004524.1:c.2261G>C (TTC7A)	XP_016860013.1:p.Gly754Ala
XM_017004525.1:c.2210G>C (TTC7A)	XP_016860014.1:p.Gly737Ala
XM_017004526.1:c.2129G>C (TTC7A)	XP_016860015.1:p.Gly710Ala
XM_024453013.1:c.1343G>C (TTC7A)	XP_024308781.1:p.Gly448Ala
NM_020458.4:c.2378G>C (TTC7A) MANE Select	NP_065191.2:p.Gly793Ala
NM_001288951.2:c.2450G>C (TTC7A)	NP_001275880.1:p.Gly817Ala
NM_001288953.2:c.2276G>C (TTC7A)	NP_001275882.1:p.Gly759Ala
NM_001288955.2:c.1316G>C (TTC7A)	NP_001275884.1:p.Gly439Ala