Canonical Allele Identifier: CA346717360

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47073715-G-T
• MyVariant Identifiers: chr2:g.47300854G>T (hg19) ; chr2:g.47073715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073715G>T , CM000664.2:g.47073715G>T	GRCh38
NC_000002.11:g.47300854G>T , CM000664.1:g.47300854G>T	GRCh37
NC_000002.10:g.47154358G>T	NCBI36
NG_034143.1:g.162587G>T
NG_034143.2:g.162587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4202G>T (TTC7A)
ENST00000698503.1:n.2375G>T (TTC7A)
ENST00000698504.1:n.450G>T (TTC7A)
ENST00000319190.11:c.2369G>T (TTC7A) MANE Select	ENSP00000316699.5:p.Ser790Ile
ENST00000651101.1:n.967G>T (TTC7A)
ENST00000651415.1:n.1160G>T (TTC7A)
ENST00000652236.1:n.1070G>T (TTC7A)
ENST00000652568.1:n.1042G>T (TTC7A)
ENST00000319190.9:c.2369G>T (TTC7A)	ENSP00000316699.5:p.Ser790Ile
ENST00000394850.6:c.2441G>T (TTC7A)	ENSP00000378320.2:p.Ser814Ile
ENST00000409245.5:c.2267G>T (TTC7A)	ENSP00000386307.1:p.Ser756Ile
ENST00000409825.5:c.2317G>T (TTC7A)
ENST00000422269.1:c.787-7578C>A
ENST00000441914.5:c.2210G>T (TTC7A)
ENST00000464527.2:n.399-7578C>A (STPG4)
ENST00000482548.1:n.402-5159C>A (STPG4)
ENST00000484061.5:n.1476G>T (TTC7A)
ENST00000491786.5:n.1773G>T (TTC7A)
ENST00000496939.1:n.416-26796C>A (STPG4)
NM_001288951.1:c.2441G>T (TTC7A)	NP_001275880.1:p.Ser814Ile
NM_001288953.1:c.2267G>T (TTC7A)	NP_001275882.1:p.Ser756Ile
NM_001288955.1:c.1307G>T (TTC7A)	NP_001275884.1:p.Ser436Ile
NM_020458.3:c.2369G>T (TTC7A)	NP_065191.2:p.Ser790Ile
XM_005264439.2:c.2012G>T (TTC7A)	XP_005264496.1:p.Ser671Ile
XM_011532998.1:c.2012G>T (TTC7A)	XP_011531300.1:p.Ser671Ile
XM_011533000.1:c.1589G>T (TTC7A)	XP_011531302.1:p.Ser530Ile
XM_011533001.1:c.1322G>T (TTC7A)	XP_011531303.1:p.Ser441Ile
XM_005264439.4:c.2012G>T (TTC7A)	XP_005264496.1:p.Ser671Ile
XM_011532998.3:c.2012G>T (TTC7A)	XP_011531300.1:p.Ser671Ile
XM_011533000.3:c.1589G>T (TTC7A)	XP_011531302.1:p.Ser530Ile
XM_011533001.3:c.1322G>T (TTC7A)	XP_011531303.1:p.Ser441Ile
XM_017004524.1:c.2252G>T (TTC7A)	XP_016860013.1:p.Ser751Ile
XM_017004525.1:c.2201G>T (TTC7A)	XP_016860014.1:p.Ser734Ile
XM_017004526.1:c.2120G>T (TTC7A)	XP_016860015.1:p.Ser707Ile
XM_024453013.1:c.1334G>T (TTC7A)	XP_024308781.1:p.Ser445Ile
NM_020458.4:c.2369G>T (TTC7A) MANE Select	NP_065191.2:p.Ser790Ile
NM_001288951.2:c.2441G>T (TTC7A)	NP_001275880.1:p.Ser814Ile
NM_001288953.2:c.2267G>T (TTC7A)	NP_001275882.1:p.Ser756Ile
NM_001288955.2:c.1307G>T (TTC7A)	NP_001275884.1:p.Ser436Ile