Canonical Allele Identifier: CA46634846

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs1035019774
• gnomAD v4: 2-47073706-T-G
• MyVariant Identifiers: chr2:g.47300845T>G (hg19) ; chr2:g.47073706T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073706T>G , CM000664.2:g.47073706T>G	GRCh38
NC_000002.11:g.47300845T>G , CM000664.1:g.47300845T>G	GRCh37
NC_000002.10:g.47154349T>G	NCBI36
NG_034143.1:g.162578T>G
NG_034143.2:g.162578T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4193T>G (TTC7A)
ENST00000698503.1:n.2366T>G (TTC7A)
ENST00000698504.1:n.441T>G (TTC7A)
ENST00000319190.11:c.2360T>G (TTC7A) MANE Select	ENSP00000316699.5:p.Leu787Arg
ENST00000651101.1:n.958T>G (TTC7A)
ENST00000651415.1:n.1151T>G (TTC7A)
ENST00000652236.1:n.1061T>G (TTC7A)
ENST00000652568.1:n.1033T>G (TTC7A)
ENST00000319190.9:c.2360T>G (TTC7A)	ENSP00000316699.5:p.Leu787Arg
ENST00000394850.6:c.2432T>G (TTC7A)	ENSP00000378320.2:p.Leu811Arg
ENST00000409245.5:c.2258T>G (TTC7A)	ENSP00000386307.1:p.Leu753Arg
ENST00000409825.5:c.2308T>G (TTC7A)
ENST00000422269.1:c.787-7569A>C
ENST00000441914.5:c.2201T>G (TTC7A)
ENST00000464527.2:n.399-7569A>C (STPG4)
ENST00000482548.1:n.402-5150A>C (STPG4)
ENST00000484061.5:n.1467T>G (TTC7A)
ENST00000491786.5:n.1764T>G (TTC7A)
ENST00000496939.1:n.416-26787A>C (STPG4)
NM_001288951.1:c.2432T>G (TTC7A)	NP_001275880.1:p.Leu811Arg
NM_001288953.1:c.2258T>G (TTC7A)	NP_001275882.1:p.Leu753Arg
NM_001288955.1:c.1298T>G (TTC7A)	NP_001275884.1:p.Leu433Arg
NM_020458.3:c.2360T>G (TTC7A)	NP_065191.2:p.Leu787Arg
XM_005264439.2:c.2003T>G (TTC7A)	XP_005264496.1:p.Leu668Arg
XM_011532998.1:c.2003T>G (TTC7A)	XP_011531300.1:p.Leu668Arg
XM_011533000.1:c.1580T>G (TTC7A)	XP_011531302.1:p.Leu527Arg
XM_011533001.1:c.1313T>G (TTC7A)	XP_011531303.1:p.Leu438Arg
XM_005264439.4:c.2003T>G (TTC7A)	XP_005264496.1:p.Leu668Arg
XM_011532998.3:c.2003T>G (TTC7A)	XP_011531300.1:p.Leu668Arg
XM_011533000.3:c.1580T>G (TTC7A)	XP_011531302.1:p.Leu527Arg
XM_011533001.3:c.1313T>G (TTC7A)	XP_011531303.1:p.Leu438Arg
XM_017004524.1:c.2243T>G (TTC7A)	XP_016860013.1:p.Leu748Arg
XM_017004525.1:c.2192T>G (TTC7A)	XP_016860014.1:p.Leu731Arg
XM_017004526.1:c.2111T>G (TTC7A)	XP_016860015.1:p.Leu704Arg
XM_024453013.1:c.1325T>G (TTC7A)	XP_024308781.1:p.Leu442Arg
NM_020458.4:c.2360T>G (TTC7A) MANE Select	NP_065191.2:p.Leu787Arg
NM_001288951.2:c.2432T>G (TTC7A)	NP_001275880.1:p.Leu811Arg
NM_001288953.2:c.2258T>G (TTC7A)	NP_001275882.1:p.Leu753Arg
NM_001288955.2:c.1298T>G (TTC7A)	NP_001275884.1:p.Leu433Arg