Canonical Allele Identifier: CA346717568

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300876G>C (hg19) ; chr2:g.47073737G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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