Canonical Allele Identifier: CA346718037

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300972C>A (hg19) ; chr2:g.47073833C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073833C>A , CM000664.2:g.47073833C>A	GRCh38
NC_000002.11:g.47300972C>A , CM000664.1:g.47300972C>A	GRCh37
NC_000002.10:g.47154476C>A	NCBI36
NG_034143.1:g.162705C>A
NG_034143.2:g.162705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4320C>A (TTC7A)
ENST00000698503.1:n.2493C>A (TTC7A)
ENST00000319190.11:c.2487C>A (TTC7A) MANE Select	ENSP00000316699.5:p.Asn829Lys
ENST00000651101.1:n.1085C>A (TTC7A)
ENST00000651415.1:n.1278C>A (TTC7A)
ENST00000652236.1:n.1188C>A (TTC7A)
ENST00000652568.1:n.1160C>A (TTC7A)
ENST00000319190.9:c.2487C>A (TTC7A)	ENSP00000316699.5:p.Asn829Lys
ENST00000394850.6:c.2559C>A (TTC7A)	ENSP00000378320.2:p.Asn853Lys
ENST00000409245.5:c.2385C>A (TTC7A)	ENSP00000386307.1:p.Asn795Lys
ENST00000409825.5:c.2435C>A (TTC7A)
ENST00000422269.1:c.787-7696G>T
ENST00000441914.5:c.2328C>A (TTC7A)
ENST00000464527.2:n.399-7696G>T (STPG4)
ENST00000482548.1:n.402-5277G>T (STPG4)
ENST00000484061.5:n.1594C>A (TTC7A)
ENST00000491786.5:n.1891C>A (TTC7A)
ENST00000496939.1:n.416-26914G>T (STPG4)
NM_001288951.1:c.2559C>A (TTC7A)	NP_001275880.1:p.Asn853Lys
NM_001288953.1:c.2385C>A (TTC7A)	NP_001275882.1:p.Asn795Lys
NM_001288955.1:c.1425C>A (TTC7A)	NP_001275884.1:p.Asn475Lys
NM_020458.3:c.2487C>A (TTC7A)	NP_065191.2:p.Asn829Lys
XM_005264439.2:c.2130C>A (TTC7A)	XP_005264496.1:p.Asn710Lys
XM_011532998.1:c.2130C>A (TTC7A)	XP_011531300.1:p.Asn710Lys
XM_011533000.1:c.1707C>A (TTC7A)	XP_011531302.1:p.Asn569Lys
XM_011533001.1:c.1440C>A (TTC7A)	XP_011531303.1:p.Asn480Lys
XM_005264439.4:c.2130C>A (TTC7A)	XP_005264496.1:p.Asn710Lys
XM_011532998.3:c.2130C>A (TTC7A)	XP_011531300.1:p.Asn710Lys
XM_011533000.3:c.1707C>A (TTC7A)	XP_011531302.1:p.Asn569Lys
XM_011533001.3:c.1440C>A (TTC7A)	XP_011531303.1:p.Asn480Lys
XM_017004524.1:c.2370C>A (TTC7A)	XP_016860013.1:p.Asn790Lys
XM_017004525.1:c.2319C>A (TTC7A)	XP_016860014.1:p.Asn773Lys
XM_017004526.1:c.2238C>A (TTC7A)	XP_016860015.1:p.Asn746Lys
XM_024453013.1:c.1452C>A (TTC7A)	XP_024308781.1:p.Asn484Lys
NM_020458.4:c.2487C>A (TTC7A) MANE Select	NP_065191.2:p.Asn829Lys
NM_001288951.2:c.2559C>A (TTC7A)	NP_001275880.1:p.Asn853Lys
NM_001288953.2:c.2385C>A (TTC7A)	NP_001275882.1:p.Asn795Lys
NM_001288955.2:c.1425C>A (TTC7A)	NP_001275884.1:p.Asn475Lys