Canonical Allele Identifier: CA346718213

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47301036T>A (hg19) ; chr2:g.47073897T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073897T>A , CM000664.2:g.47073897T>A	GRCh38
NC_000002.11:g.47301036T>A , CM000664.1:g.47301036T>A	GRCh37
NC_000002.10:g.47154540T>A	NCBI36
NG_034143.1:g.162769T>A
NG_034143.2:g.162769T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4384T>A (TTC7A)
ENST00000698503.1:n.2557T>A (TTC7A)
ENST00000319190.11:c.2551T>A (TTC7A) MANE Select	ENSP00000316699.5:p.Phe851Ile
ENST00000651101.1:n.1149T>A (TTC7A)
ENST00000651415.1:n.1342T>A (TTC7A)
ENST00000652236.1:n.1252T>A (TTC7A)
ENST00000652568.1:n.1224T>A (TTC7A)
ENST00000319190.9:c.2551T>A (TTC7A)	ENSP00000316699.5:p.Phe851Ile
ENST00000394850.6:c.2623T>A (TTC7A)	ENSP00000378320.2:p.Phe875Ile
ENST00000409245.5:c.2449T>A (TTC7A)	ENSP00000386307.1:p.Phe817Ile
ENST00000409825.5:c.2499T>A (TTC7A)
ENST00000422269.1:c.787-7760A>T
ENST00000441914.5:c.2392T>A (TTC7A)
ENST00000464527.2:n.399-7760A>T (STPG4)
ENST00000482548.1:n.402-5341A>T (STPG4)
ENST00000484061.5:n.1658T>A (TTC7A)
ENST00000491786.5:n.1955T>A (TTC7A)
ENST00000496939.1:n.416-26978A>T (STPG4)
NM_001288951.1:c.2623T>A (TTC7A)	NP_001275880.1:p.Phe875Ile
NM_001288953.1:c.2449T>A (TTC7A)	NP_001275882.1:p.Phe817Ile
NM_001288955.1:c.1489T>A (TTC7A)	NP_001275884.1:p.Phe497Ile
NM_020458.3:c.2551T>A (TTC7A)	NP_065191.2:p.Phe851Ile
XM_005264439.2:c.2194T>A (TTC7A)	XP_005264496.1:p.Phe732Ile
XM_011532998.1:c.2194T>A (TTC7A)	XP_011531300.1:p.Phe732Ile
XM_011533000.1:c.1771T>A (TTC7A)	XP_011531302.1:p.Phe591Ile
XM_011533001.1:c.1504T>A (TTC7A)	XP_011531303.1:p.Phe502Ile
XM_005264439.4:c.2194T>A (TTC7A)	XP_005264496.1:p.Phe732Ile
XM_011532998.3:c.2194T>A (TTC7A)	XP_011531300.1:p.Phe732Ile
XM_011533000.3:c.1771T>A (TTC7A)	XP_011531302.1:p.Phe591Ile
XM_011533001.3:c.1504T>A (TTC7A)	XP_011531303.1:p.Phe502Ile
XM_017004524.1:c.2434T>A (TTC7A)	XP_016860013.1:p.Phe812Ile
XM_017004525.1:c.2383T>A (TTC7A)	XP_016860014.1:p.Phe795Ile
XM_017004526.1:c.2302T>A (TTC7A)	XP_016860015.1:p.Phe768Ile
XM_024453013.1:c.1516T>A (TTC7A)	XP_024308781.1:p.Phe506Ile
NM_020458.4:c.2551T>A (TTC7A) MANE Select	NP_065191.2:p.Phe851Ile
NM_001288951.2:c.2623T>A (TTC7A)	NP_001275880.1:p.Phe875Ile
NM_001288953.2:c.2449T>A (TTC7A)	NP_001275882.1:p.Phe817Ile
NM_001288955.2:c.1489T>A (TTC7A)	NP_001275884.1:p.Phe497Ile