Canonical Allele Identifier: CA1648176

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs761344716
• ExAC: 2:47300972 C / T
• gnomAD v2: 2-47300972-C-T
• gnomAD v3: 2-47073833-C-T
• gnomAD v4: 2-47073833-C-T
• MyVariant Identifiers: chr2:g.47300972C>T (hg19) ; chr2:g.47073833C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4320C>T (TTC7A)
ENST00000698503.1:n.2493C>T (TTC7A)
ENST00000319190.11:c.2487C>T (TTC7A) MANE Select	ENSP00000316699.5:p.Asn829=
ENST00000651101.1:n.1085C>T (TTC7A)
ENST00000651415.1:n.1278C>T (TTC7A)
ENST00000652236.1:n.1188C>T (TTC7A)
ENST00000652568.1:n.1160C>T (TTC7A)
ENST00000319190.9:c.2487C>T (TTC7A)	ENSP00000316699.5:p.Asn829=
ENST00000394850.6:c.2559C>T (TTC7A)	ENSP00000378320.2:p.Asn853=
ENST00000409245.5:c.2385C>T (TTC7A)	ENSP00000386307.1:p.Asn795=
ENST00000409825.5:c.2435C>T (TTC7A)
ENST00000422269.1:c.787-7696G>A
ENST00000441914.5:c.2328C>T (TTC7A)
ENST00000464527.2:n.399-7696G>A (STPG4)
ENST00000482548.1:n.402-5277G>A (STPG4)
ENST00000484061.5:n.1594C>T (TTC7A)
ENST00000491786.5:n.1891C>T (TTC7A)
ENST00000496939.1:n.416-26914G>A (STPG4)
NM_001288951.1:c.2559C>T (TTC7A)	NP_001275880.1:p.Asn853=
NM_001288953.1:c.2385C>T (TTC7A)	NP_001275882.1:p.Asn795=
NM_001288955.1:c.1425C>T (TTC7A)	NP_001275884.1:p.Asn475=
NM_020458.3:c.2487C>T (TTC7A)	NP_065191.2:p.Asn829=
XM_005264439.2:c.2130C>T (TTC7A)	XP_005264496.1:p.Asn710=
XM_011532998.1:c.2130C>T (TTC7A)	XP_011531300.1:p.Asn710=
XM_011533000.1:c.1707C>T (TTC7A)	XP_011531302.1:p.Asn569=
XM_011533001.1:c.1440C>T (TTC7A)	XP_011531303.1:p.Asn480=
XM_005264439.4:c.2130C>T (TTC7A)	XP_005264496.1:p.Asn710=
XM_011532998.3:c.2130C>T (TTC7A)	XP_011531300.1:p.Asn710=
XM_011533000.3:c.1707C>T (TTC7A)	XP_011531302.1:p.Asn569=
XM_011533001.3:c.1440C>T (TTC7A)	XP_011531303.1:p.Asn480=
XM_017004524.1:c.2370C>T (TTC7A)	XP_016860013.1:p.Asn790=
XM_017004525.1:c.2319C>T (TTC7A)	XP_016860014.1:p.Asn773=
XM_017004526.1:c.2238C>T (TTC7A)	XP_016860015.1:p.Asn746=
XM_024453013.1:c.1452C>T (TTC7A)	XP_024308781.1:p.Asn484=
NM_020458.4:c.2487C>T (TTC7A) MANE Select	NP_065191.2:p.Asn829=
NM_001288951.2:c.2559C>T (TTC7A)	NP_001275880.1:p.Asn853=
NM_001288953.2:c.2385C>T (TTC7A)	NP_001275882.1:p.Asn795=
NM_001288955.2:c.1425C>T (TTC7A)	NP_001275884.1:p.Asn475=