Canonical Allele Identifier: CA426118684

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300978T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073839T>A , CM000664.2:g.47073839T>A	GRCh38
NC_000002.11:g.47300978T>A , CM000664.1:g.47300978T>A	GRCh37
NC_000002.10:g.47154482T>A	NCBI36
NG_034143.1:g.162711T>A
NG_034143.2:g.162711T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4326T>A (TTC7A)
ENST00000698503.1:n.2499T>A (TTC7A)
ENST00000319190.11:c.2493T>A (TTC7A) MANE Select	ENSP00000316699.5:p.Ala831=
ENST00000651101.1:n.1091T>A (TTC7A)
ENST00000651415.1:n.1284T>A (TTC7A)
ENST00000652236.1:n.1194T>A (TTC7A)
ENST00000652568.1:n.1166T>A (TTC7A)
ENST00000319190.9:c.2493T>A (TTC7A)	ENSP00000316699.5:p.Ala831=
ENST00000394850.6:c.2565T>A (TTC7A)	ENSP00000378320.2:p.Ala855=
ENST00000409245.5:c.2391T>A (TTC7A)	ENSP00000386307.1:p.Ala797=
ENST00000409825.5:c.2441T>A (TTC7A)
ENST00000422269.1:c.787-7702A>T
ENST00000441914.5:c.2334T>A (TTC7A)
ENST00000464527.2:n.399-7702A>T (STPG4)
ENST00000482548.1:n.402-5283A>T (STPG4)
ENST00000484061.5:n.1600T>A (TTC7A)
ENST00000491786.5:n.1897T>A (TTC7A)
ENST00000496939.1:n.416-26920A>T (STPG4)
NM_001288951.1:c.2565T>A (TTC7A)	NP_001275880.1:p.Ala855=
NM_001288953.1:c.2391T>A (TTC7A)	NP_001275882.1:p.Ala797=
NM_001288955.1:c.1431T>A (TTC7A)	NP_001275884.1:p.Ala477=
NM_020458.3:c.2493T>A (TTC7A)	NP_065191.2:p.Ala831=
XM_005264439.2:c.2136T>A (TTC7A)	XP_005264496.1:p.Ala712=
XM_011532998.1:c.2136T>A (TTC7A)	XP_011531300.1:p.Ala712=
XM_011533000.1:c.1713T>A (TTC7A)	XP_011531302.1:p.Ala571=
XM_011533001.1:c.1446T>A (TTC7A)	XP_011531303.1:p.Ala482=
XM_005264439.4:c.2136T>A (TTC7A)	XP_005264496.1:p.Ala712=
XM_011532998.3:c.2136T>A (TTC7A)	XP_011531300.1:p.Ala712=
XM_011533000.3:c.1713T>A (TTC7A)	XP_011531302.1:p.Ala571=
XM_011533001.3:c.1446T>A (TTC7A)	XP_011531303.1:p.Ala482=
XM_017004524.1:c.2376T>A (TTC7A)	XP_016860013.1:p.Ala792=
XM_017004525.1:c.2325T>A (TTC7A)	XP_016860014.1:p.Ala775=
XM_017004526.1:c.2244T>A (TTC7A)	XP_016860015.1:p.Ala748=
XM_024453013.1:c.1458T>A (TTC7A)	XP_024308781.1:p.Ala486=
NM_020458.4:c.2493T>A (TTC7A) MANE Select	NP_065191.2:p.Ala831=
NM_001288951.2:c.2565T>A (TTC7A)	NP_001275880.1:p.Ala855=
NM_001288953.2:c.2391T>A (TTC7A)	NP_001275882.1:p.Ala797=
NM_001288955.2:c.1431T>A (TTC7A)	NP_001275884.1:p.Ala477=