Canonical Allele Identifier: CA1648178

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs772868763
• ExAC: 2:47300975 G / C
• gnomAD v2: 2-47300975-G-C
• gnomAD v4: 2-47073836-G-C
• MyVariant Identifiers: chr2:g.47300975G>C (hg19) ; chr2:g.47073836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073836G>C , CM000664.2:g.47073836G>C	GRCh38
NC_000002.11:g.47300975G>C , CM000664.1:g.47300975G>C	GRCh37
NC_000002.10:g.47154479G>C	NCBI36
NG_034143.1:g.162708G>C
NG_034143.2:g.162708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4323G>C (TTC7A)
ENST00000698503.1:n.2496G>C (TTC7A)
ENST00000319190.11:c.2490G>C (TTC7A) MANE Select	ENSP00000316699.5:p.Glu830Asp
ENST00000651101.1:n.1088G>C (TTC7A)
ENST00000651415.1:n.1281G>C (TTC7A)
ENST00000652236.1:n.1191G>C (TTC7A)
ENST00000652568.1:n.1163G>C (TTC7A)
ENST00000319190.9:c.2490G>C (TTC7A)	ENSP00000316699.5:p.Glu830Asp
ENST00000394850.6:c.2562G>C (TTC7A)	ENSP00000378320.2:p.Glu854Asp
ENST00000409245.5:c.2388G>C (TTC7A)	ENSP00000386307.1:p.Glu796Asp
ENST00000409825.5:c.2438G>C (TTC7A)
ENST00000422269.1:c.787-7699C>G
ENST00000441914.5:c.2331G>C (TTC7A)
ENST00000464527.2:n.399-7699C>G (STPG4)
ENST00000482548.1:n.402-5280C>G (STPG4)
ENST00000484061.5:n.1597G>C (TTC7A)
ENST00000491786.5:n.1894G>C (TTC7A)
ENST00000496939.1:n.416-26917C>G (STPG4)
NM_001288951.1:c.2562G>C (TTC7A)	NP_001275880.1:p.Glu854Asp
NM_001288953.1:c.2388G>C (TTC7A)	NP_001275882.1:p.Glu796Asp
NM_001288955.1:c.1428G>C (TTC7A)	NP_001275884.1:p.Glu476Asp
NM_020458.3:c.2490G>C (TTC7A)	NP_065191.2:p.Glu830Asp
XM_005264439.2:c.2133G>C (TTC7A)	XP_005264496.1:p.Glu711Asp
XM_011532998.1:c.2133G>C (TTC7A)	XP_011531300.1:p.Glu711Asp
XM_011533000.1:c.1710G>C (TTC7A)	XP_011531302.1:p.Glu570Asp
XM_011533001.1:c.1443G>C (TTC7A)	XP_011531303.1:p.Glu481Asp
XM_005264439.4:c.2133G>C (TTC7A)	XP_005264496.1:p.Glu711Asp
XM_011532998.3:c.2133G>C (TTC7A)	XP_011531300.1:p.Glu711Asp
XM_011533000.3:c.1710G>C (TTC7A)	XP_011531302.1:p.Glu570Asp
XM_011533001.3:c.1443G>C (TTC7A)	XP_011531303.1:p.Glu481Asp
XM_017004524.1:c.2373G>C (TTC7A)	XP_016860013.1:p.Glu791Asp
XM_017004525.1:c.2322G>C (TTC7A)	XP_016860014.1:p.Glu774Asp
XM_017004526.1:c.2241G>C (TTC7A)	XP_016860015.1:p.Glu747Asp
XM_024453013.1:c.1455G>C (TTC7A)	XP_024308781.1:p.Glu485Asp
NM_020458.4:c.2490G>C (TTC7A) MANE Select	NP_065191.2:p.Glu830Asp
NM_001288951.2:c.2562G>C (TTC7A)	NP_001275880.1:p.Glu854Asp
NM_001288953.2:c.2388G>C (TTC7A)	NP_001275882.1:p.Glu796Asp
NM_001288955.2:c.1428G>C (TTC7A)	NP_001275884.1:p.Glu476Asp