Canonical Allele Identifier: CA346717536

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47073734-C-G
• MyVariant Identifiers: chr2:g.47300873C>G (hg19) ; chr2:g.47073734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073734C>G , CM000664.2:g.47073734C>G	GRCh38
NC_000002.11:g.47300873C>G , CM000664.1:g.47300873C>G	GRCh37
NC_000002.10:g.47154377C>G	NCBI36
NG_034143.1:g.162606C>G
NG_034143.2:g.162606C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4221C>G (TTC7A)
ENST00000698503.1:n.2394C>G (TTC7A)
ENST00000698504.1:n.469C>G (TTC7A)
ENST00000319190.11:c.2388C>G (TTC7A) MANE Select	ENSP00000316699.5:p.Ser796Arg
ENST00000651101.1:n.986C>G (TTC7A)
ENST00000651415.1:n.1179C>G (TTC7A)
ENST00000652236.1:n.1089C>G (TTC7A)
ENST00000652568.1:n.1061C>G (TTC7A)
ENST00000319190.9:c.2388C>G (TTC7A)	ENSP00000316699.5:p.Ser796Arg
ENST00000394850.6:c.2460C>G (TTC7A)	ENSP00000378320.2:p.Ser820Arg
ENST00000409245.5:c.2286C>G (TTC7A)	ENSP00000386307.1:p.Ser762Arg
ENST00000409825.5:c.2336C>G (TTC7A)
ENST00000422269.1:c.787-7597G>C
ENST00000441914.5:c.2229C>G (TTC7A)
ENST00000464527.2:n.399-7597G>C (STPG4)
ENST00000482548.1:n.402-5178G>C (STPG4)
ENST00000484061.5:n.1495C>G (TTC7A)
ENST00000491786.5:n.1792C>G (TTC7A)
ENST00000496939.1:n.416-26815G>C (STPG4)
NM_001288951.1:c.2460C>G (TTC7A)	NP_001275880.1:p.Ser820Arg
NM_001288953.1:c.2286C>G (TTC7A)	NP_001275882.1:p.Ser762Arg
NM_001288955.1:c.1326C>G (TTC7A)	NP_001275884.1:p.Ser442Arg
NM_020458.3:c.2388C>G (TTC7A)	NP_065191.2:p.Ser796Arg
XM_005264439.2:c.2031C>G (TTC7A)	XP_005264496.1:p.Ser677Arg
XM_011532998.1:c.2031C>G (TTC7A)	XP_011531300.1:p.Ser677Arg
XM_011533000.1:c.1608C>G (TTC7A)	XP_011531302.1:p.Ser536Arg
XM_011533001.1:c.1341C>G (TTC7A)	XP_011531303.1:p.Ser447Arg
XM_005264439.4:c.2031C>G (TTC7A)	XP_005264496.1:p.Ser677Arg
XM_011532998.3:c.2031C>G (TTC7A)	XP_011531300.1:p.Ser677Arg
XM_011533000.3:c.1608C>G (TTC7A)	XP_011531302.1:p.Ser536Arg
XM_011533001.3:c.1341C>G (TTC7A)	XP_011531303.1:p.Ser447Arg
XM_017004524.1:c.2271C>G (TTC7A)	XP_016860013.1:p.Ser757Arg
XM_017004525.1:c.2220C>G (TTC7A)	XP_016860014.1:p.Ser740Arg
XM_017004526.1:c.2139C>G (TTC7A)	XP_016860015.1:p.Ser713Arg
XM_024453013.1:c.1353C>G (TTC7A)	XP_024308781.1:p.Ser451Arg
NM_020458.4:c.2388C>G (TTC7A) MANE Select	NP_065191.2:p.Ser796Arg
NM_001288951.2:c.2460C>G (TTC7A)	NP_001275880.1:p.Ser820Arg
NM_001288953.2:c.2286C>G (TTC7A)	NP_001275882.1:p.Ser762Arg
NM_001288955.2:c.1326C>G (TTC7A)	NP_001275884.1:p.Ser442Arg