Canonical Allele Identifier: CA1648195

Gene: TTC7A STPG4

Linked Data

• ClinVar Variation Id: 2779568
• ClinVar RCV Id: RCV003643131
• dbSNP Id: rs771579685
• ExAC: 2:47301038 C / T
• gnomAD v2: 2-47301038-C-T
• gnomAD v3: 2-47073899-C-T
• gnomAD v4: 2-47073899-C-T
• MyVariant Identifiers: chr2:g.47301038C>T (hg19) ; chr2:g.47073899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073899C>T , CM000664.2:g.47073899C>T	GRCh38
NC_000002.11:g.47301038C>T , CM000664.1:g.47301038C>T	GRCh37
NC_000002.10:g.47154542C>T	NCBI36
NG_034143.1:g.162771C>T
NG_034143.2:g.162771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4386C>T (TTC7A)
ENST00000698503.1:n.2559C>T (TTC7A)
ENST00000319190.11:c.2553C>T (TTC7A) MANE Select	ENSP00000316699.5:p.Phe851=
ENST00000651101.1:n.1151C>T (TTC7A)
ENST00000651415.1:n.1344C>T (TTC7A)
ENST00000652236.1:n.1254C>T (TTC7A)
ENST00000652568.1:n.1226C>T (TTC7A)
ENST00000319190.9:c.2553C>T (TTC7A)	ENSP00000316699.5:p.Phe851=
ENST00000394850.6:c.2625C>T (TTC7A)	ENSP00000378320.2:p.Phe875=
ENST00000409245.5:c.2451C>T (TTC7A)	ENSP00000386307.1:p.Phe817=
ENST00000409825.5:c.2501C>T (TTC7A)
ENST00000422269.1:c.787-7762G>A
ENST00000441914.5:c.2394C>T (TTC7A)
ENST00000464527.2:n.399-7762G>A (STPG4)
ENST00000482548.1:n.402-5343G>A (STPG4)
ENST00000484061.5:n.1660C>T (TTC7A)
ENST00000491786.5:n.1957C>T (TTC7A)
ENST00000496939.1:n.416-26980G>A (STPG4)
NM_001288951.1:c.2625C>T (TTC7A)	NP_001275880.1:p.Phe875=
NM_001288953.1:c.2451C>T (TTC7A)	NP_001275882.1:p.Phe817=
NM_001288955.1:c.1491C>T (TTC7A)	NP_001275884.1:p.Phe497=
NM_020458.3:c.2553C>T (TTC7A)	NP_065191.2:p.Phe851=
XM_005264439.2:c.2196C>T (TTC7A)	XP_005264496.1:p.Phe732=
XM_011532998.1:c.2196C>T (TTC7A)	XP_011531300.1:p.Phe732=
XM_011533000.1:c.1773C>T (TTC7A)	XP_011531302.1:p.Phe591=
XM_011533001.1:c.1506C>T (TTC7A)	XP_011531303.1:p.Phe502=
XM_005264439.4:c.2196C>T (TTC7A)	XP_005264496.1:p.Phe732=
XM_011532998.3:c.2196C>T (TTC7A)	XP_011531300.1:p.Phe732=
XM_011533000.3:c.1773C>T (TTC7A)	XP_011531302.1:p.Phe591=
XM_011533001.3:c.1506C>T (TTC7A)	XP_011531303.1:p.Phe502=
XM_017004524.1:c.2436C>T (TTC7A)	XP_016860013.1:p.Phe812=
XM_017004525.1:c.2385C>T (TTC7A)	XP_016860014.1:p.Phe795=
XM_017004526.1:c.2304C>T (TTC7A)	XP_016860015.1:p.Phe768=
XM_024453013.1:c.1518C>T (TTC7A)	XP_024308781.1:p.Phe506=
NM_020458.4:c.2553C>T (TTC7A) MANE Select	NP_065191.2:p.Phe851=
NM_001288951.2:c.2625C>T (TTC7A)	NP_001275880.1:p.Phe875=
NM_001288953.2:c.2451C>T (TTC7A)	NP_001275882.1:p.Phe817=
NM_001288955.2:c.1491C>T (TTC7A)	NP_001275884.1:p.Phe497=