Canonical Allele Identifier: CA346718058

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300983T>G (hg19) ; chr2:g.47073844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073844T>G , CM000664.2:g.47073844T>G	GRCh38
NC_000002.11:g.47300983T>G , CM000664.1:g.47300983T>G	GRCh37
NC_000002.10:g.47154487T>G	NCBI36
NG_034143.1:g.162716T>G
NG_034143.2:g.162716T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4331T>G (TTC7A)
ENST00000698503.1:n.2504T>G (TTC7A)
ENST00000319190.11:c.2498T>G (TTC7A) MANE Select	ENSP00000316699.5:p.Val833Gly
ENST00000651101.1:n.1096T>G (TTC7A)
ENST00000651415.1:n.1289T>G (TTC7A)
ENST00000652236.1:n.1199T>G (TTC7A)
ENST00000652568.1:n.1171T>G (TTC7A)
ENST00000319190.9:c.2498T>G (TTC7A)	ENSP00000316699.5:p.Val833Gly
ENST00000394850.6:c.2570T>G (TTC7A)	ENSP00000378320.2:p.Val857Gly
ENST00000409245.5:c.2396T>G (TTC7A)	ENSP00000386307.1:p.Val799Gly
ENST00000409825.5:c.2446T>G (TTC7A)
ENST00000422269.1:c.787-7707A>C
ENST00000441914.5:c.2339T>G (TTC7A)
ENST00000464527.2:n.399-7707A>C (STPG4)
ENST00000482548.1:n.402-5288A>C (STPG4)
ENST00000484061.5:n.1605T>G (TTC7A)
ENST00000491786.5:n.1902T>G (TTC7A)
ENST00000496939.1:n.416-26925A>C (STPG4)
NM_001288951.1:c.2570T>G (TTC7A)	NP_001275880.1:p.Val857Gly
NM_001288953.1:c.2396T>G (TTC7A)	NP_001275882.1:p.Val799Gly
NM_001288955.1:c.1436T>G (TTC7A)	NP_001275884.1:p.Val479Gly
NM_020458.3:c.2498T>G (TTC7A)	NP_065191.2:p.Val833Gly
XM_005264439.2:c.2141T>G (TTC7A)	XP_005264496.1:p.Val714Gly
XM_011532998.1:c.2141T>G (TTC7A)	XP_011531300.1:p.Val714Gly
XM_011533000.1:c.1718T>G (TTC7A)	XP_011531302.1:p.Val573Gly
XM_011533001.1:c.1451T>G (TTC7A)	XP_011531303.1:p.Val484Gly
XM_005264439.4:c.2141T>G (TTC7A)	XP_005264496.1:p.Val714Gly
XM_011532998.3:c.2141T>G (TTC7A)	XP_011531300.1:p.Val714Gly
XM_011533000.3:c.1718T>G (TTC7A)	XP_011531302.1:p.Val573Gly
XM_011533001.3:c.1451T>G (TTC7A)	XP_011531303.1:p.Val484Gly
XM_017004524.1:c.2381T>G (TTC7A)	XP_016860013.1:p.Val794Gly
XM_017004525.1:c.2330T>G (TTC7A)	XP_016860014.1:p.Val777Gly
XM_017004526.1:c.2249T>G (TTC7A)	XP_016860015.1:p.Val750Gly
XM_024453013.1:c.1463T>G (TTC7A)	XP_024308781.1:p.Val488Gly
NM_020458.4:c.2498T>G (TTC7A) MANE Select	NP_065191.2:p.Val833Gly
NM_001288951.2:c.2570T>G (TTC7A)	NP_001275880.1:p.Val857Gly
NM_001288953.2:c.2396T>G (TTC7A)	NP_001275882.1:p.Val799Gly
NM_001288955.2:c.1436T>G (TTC7A)	NP_001275884.1:p.Val479Gly