Canonical Allele Identifier: CA346717582

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300877G>A (hg19) ; chr2:g.47073738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073738G>A , CM000664.2:g.47073738G>A	GRCh38
NC_000002.11:g.47300877G>A , CM000664.1:g.47300877G>A	GRCh37
NC_000002.10:g.47154381G>A	NCBI36
NG_034143.1:g.162610G>A
NG_034143.2:g.162610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4225G>A (TTC7A)
ENST00000698503.1:n.2398G>A (TTC7A)
ENST00000698504.1:n.473G>A (TTC7A)
ENST00000319190.11:c.2392G>A (TTC7A) MANE Select	ENSP00000316699.5:p.Ala798Thr
ENST00000651101.1:n.990G>A (TTC7A)
ENST00000651415.1:n.1183G>A (TTC7A)
ENST00000652236.1:n.1093G>A (TTC7A)
ENST00000652568.1:n.1065G>A (TTC7A)
ENST00000319190.9:c.2392G>A (TTC7A)	ENSP00000316699.5:p.Ala798Thr
ENST00000394850.6:c.2464G>A (TTC7A)	ENSP00000378320.2:p.Ala822Thr
ENST00000409245.5:c.2290G>A (TTC7A)	ENSP00000386307.1:p.Ala764Thr
ENST00000409825.5:c.2340G>A (TTC7A)
ENST00000422269.1:c.787-7601C>T
ENST00000441914.5:c.2233G>A (TTC7A)
ENST00000464527.2:n.399-7601C>T (STPG4)
ENST00000482548.1:n.402-5182C>T (STPG4)
ENST00000484061.5:n.1499G>A (TTC7A)
ENST00000491786.5:n.1796G>A (TTC7A)
ENST00000496939.1:n.416-26819C>T (STPG4)
NM_001288951.1:c.2464G>A (TTC7A)	NP_001275880.1:p.Ala822Thr
NM_001288953.1:c.2290G>A (TTC7A)	NP_001275882.1:p.Ala764Thr
NM_001288955.1:c.1330G>A (TTC7A)	NP_001275884.1:p.Ala444Thr
NM_020458.3:c.2392G>A (TTC7A)	NP_065191.2:p.Ala798Thr
XM_005264439.2:c.2035G>A (TTC7A)	XP_005264496.1:p.Ala679Thr
XM_011532998.1:c.2035G>A (TTC7A)	XP_011531300.1:p.Ala679Thr
XM_011533000.1:c.1612G>A (TTC7A)	XP_011531302.1:p.Ala538Thr
XM_011533001.1:c.1345G>A (TTC7A)	XP_011531303.1:p.Ala449Thr
XM_005264439.4:c.2035G>A (TTC7A)	XP_005264496.1:p.Ala679Thr
XM_011532998.3:c.2035G>A (TTC7A)	XP_011531300.1:p.Ala679Thr
XM_011533000.3:c.1612G>A (TTC7A)	XP_011531302.1:p.Ala538Thr
XM_011533001.3:c.1345G>A (TTC7A)	XP_011531303.1:p.Ala449Thr
XM_017004524.1:c.2275G>A (TTC7A)	XP_016860013.1:p.Ala759Thr
XM_017004525.1:c.2224G>A (TTC7A)	XP_016860014.1:p.Ala742Thr
XM_017004526.1:c.2143G>A (TTC7A)	XP_016860015.1:p.Ala715Thr
XM_024453013.1:c.1357G>A (TTC7A)	XP_024308781.1:p.Ala453Thr
NM_020458.4:c.2392G>A (TTC7A) MANE Select	NP_065191.2:p.Ala798Thr
NM_001288951.2:c.2464G>A (TTC7A)	NP_001275880.1:p.Ala822Thr
NM_001288953.2:c.2290G>A (TTC7A)	NP_001275882.1:p.Ala764Thr
NM_001288955.2:c.1330G>A (TTC7A)	NP_001275884.1:p.Ala444Thr