Canonical Allele Identifier: CA346717572

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47073737-G-T
• MyVariant Identifiers: chr2:g.47300876G>T (hg19) ; chr2:g.47073737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073737G>T , CM000664.2:g.47073737G>T	GRCh38
NC_000002.11:g.47300876G>T , CM000664.1:g.47300876G>T	GRCh37
NC_000002.10:g.47154380G>T	NCBI36
NG_034143.1:g.162609G>T
NG_034143.2:g.162609G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4224G>T (TTC7A)
ENST00000698503.1:n.2397G>T (TTC7A)
ENST00000698504.1:n.472G>T (TTC7A)
ENST00000319190.11:c.2391G>T (TTC7A) MANE Select	ENSP00000316699.5:p.Leu797Phe
ENST00000651101.1:n.989G>T (TTC7A)
ENST00000651415.1:n.1182G>T (TTC7A)
ENST00000652236.1:n.1092G>T (TTC7A)
ENST00000652568.1:n.1064G>T (TTC7A)
ENST00000319190.9:c.2391G>T (TTC7A)	ENSP00000316699.5:p.Leu797Phe
ENST00000394850.6:c.2463G>T (TTC7A)	ENSP00000378320.2:p.Leu821Phe
ENST00000409245.5:c.2289G>T (TTC7A)	ENSP00000386307.1:p.Leu763Phe
ENST00000409825.5:c.2339G>T (TTC7A)
ENST00000422269.1:c.787-7600C>A
ENST00000441914.5:c.2232G>T (TTC7A)
ENST00000464527.2:n.399-7600C>A (STPG4)
ENST00000482548.1:n.402-5181C>A (STPG4)
ENST00000484061.5:n.1498G>T (TTC7A)
ENST00000491786.5:n.1795G>T (TTC7A)
ENST00000496939.1:n.416-26818C>A (STPG4)
NM_001288951.1:c.2463G>T (TTC7A)	NP_001275880.1:p.Leu821Phe
NM_001288953.1:c.2289G>T (TTC7A)	NP_001275882.1:p.Leu763Phe
NM_001288955.1:c.1329G>T (TTC7A)	NP_001275884.1:p.Leu443Phe
NM_020458.3:c.2391G>T (TTC7A)	NP_065191.2:p.Leu797Phe
XM_005264439.2:c.2034G>T (TTC7A)	XP_005264496.1:p.Leu678Phe
XM_011532998.1:c.2034G>T (TTC7A)	XP_011531300.1:p.Leu678Phe
XM_011533000.1:c.1611G>T (TTC7A)	XP_011531302.1:p.Leu537Phe
XM_011533001.1:c.1344G>T (TTC7A)	XP_011531303.1:p.Leu448Phe
XM_005264439.4:c.2034G>T (TTC7A)	XP_005264496.1:p.Leu678Phe
XM_011532998.3:c.2034G>T (TTC7A)	XP_011531300.1:p.Leu678Phe
XM_011533000.3:c.1611G>T (TTC7A)	XP_011531302.1:p.Leu537Phe
XM_011533001.3:c.1344G>T (TTC7A)	XP_011531303.1:p.Leu448Phe
XM_017004524.1:c.2274G>T (TTC7A)	XP_016860013.1:p.Leu758Phe
XM_017004525.1:c.2223G>T (TTC7A)	XP_016860014.1:p.Leu741Phe
XM_017004526.1:c.2142G>T (TTC7A)	XP_016860015.1:p.Leu714Phe
XM_024453013.1:c.1356G>T (TTC7A)	XP_024308781.1:p.Leu452Phe
NM_020458.4:c.2391G>T (TTC7A) MANE Select	NP_065191.2:p.Leu797Phe
NM_001288951.2:c.2463G>T (TTC7A)	NP_001275880.1:p.Leu821Phe
NM_001288953.2:c.2289G>T (TTC7A)	NP_001275882.1:p.Leu763Phe
NM_001288955.2:c.1329G>T (TTC7A)	NP_001275884.1:p.Leu443Phe