Canonical Allele Identifier: CA346718241

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47073903-A-C
• MyVariant Identifiers: chr2:g.47301042A>C (hg19) ; chr2:g.47073903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073903A>C , CM000664.2:g.47073903A>C	GRCh38
NC_000002.11:g.47301042A>C , CM000664.1:g.47301042A>C	GRCh37
NC_000002.10:g.47154546A>C	NCBI36
NG_034143.1:g.162775A>C
NG_034143.2:g.162775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4390A>C (TTC7A)
ENST00000698503.1:n.2563A>C (TTC7A)
ENST00000319190.11:c.2557A>C (TTC7A) MANE Select	ENSP00000316699.5:p.Ile853Leu
ENST00000651101.1:n.1155A>C (TTC7A)
ENST00000651415.1:n.1348A>C (TTC7A)
ENST00000652236.1:n.1258A>C (TTC7A)
ENST00000652568.1:n.1230A>C (TTC7A)
ENST00000319190.9:c.2557A>C (TTC7A)	ENSP00000316699.5:p.Ile853Leu
ENST00000394850.6:c.2629A>C (TTC7A)	ENSP00000378320.2:p.Ile877Leu
ENST00000409245.5:c.2455A>C (TTC7A)	ENSP00000386307.1:p.Ile819Leu
ENST00000409825.5:c.2505A>C (TTC7A)
ENST00000422269.1:c.787-7766T>G
ENST00000441914.5:c.2398A>C (TTC7A)
ENST00000464527.2:n.399-7766T>G (STPG4)
ENST00000482548.1:n.402-5347T>G (STPG4)
ENST00000484061.5:n.1664A>C (TTC7A)
ENST00000491786.5:n.1961A>C (TTC7A)
ENST00000496939.1:n.416-26984T>G (STPG4)
NM_001288951.1:c.2629A>C (TTC7A)	NP_001275880.1:p.Ile877Leu
NM_001288953.1:c.2455A>C (TTC7A)	NP_001275882.1:p.Ile819Leu
NM_001288955.1:c.1495A>C (TTC7A)	NP_001275884.1:p.Ile499Leu
NM_020458.3:c.2557A>C (TTC7A)	NP_065191.2:p.Ile853Leu
XM_005264439.2:c.2200A>C (TTC7A)	XP_005264496.1:p.Ile734Leu
XM_011532998.1:c.2200A>C (TTC7A)	XP_011531300.1:p.Ile734Leu
XM_011533000.1:c.1777A>C (TTC7A)	XP_011531302.1:p.Ile593Leu
XM_011533001.1:c.1510A>C (TTC7A)	XP_011531303.1:p.Ile504Leu
XM_005264439.4:c.2200A>C (TTC7A)	XP_005264496.1:p.Ile734Leu
XM_011532998.3:c.2200A>C (TTC7A)	XP_011531300.1:p.Ile734Leu
XM_011533000.3:c.1777A>C (TTC7A)	XP_011531302.1:p.Ile593Leu
XM_011533001.3:c.1510A>C (TTC7A)	XP_011531303.1:p.Ile504Leu
XM_017004524.1:c.2440A>C (TTC7A)	XP_016860013.1:p.Ile814Leu
XM_017004525.1:c.2389A>C (TTC7A)	XP_016860014.1:p.Ile797Leu
XM_017004526.1:c.2308A>C (TTC7A)	XP_016860015.1:p.Ile770Leu
XM_024453013.1:c.1522A>C (TTC7A)	XP_024308781.1:p.Ile508Leu
NM_020458.4:c.2557A>C (TTC7A) MANE Select	NP_065191.2:p.Ile853Leu
NM_001288951.2:c.2629A>C (TTC7A)	NP_001275880.1:p.Ile877Leu
NM_001288953.2:c.2455A>C (TTC7A)	NP_001275882.1:p.Ile819Leu
NM_001288955.2:c.1495A>C (TTC7A)	NP_001275884.1:p.Ile499Leu