Canonical Allele Identifier: CA346717405

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300860T>C (hg19) ; chr2:g.47073721T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073721T>C , CM000664.2:g.47073721T>C	GRCh38
NC_000002.11:g.47300860T>C , CM000664.1:g.47300860T>C	GRCh37
NC_000002.10:g.47154364T>C	NCBI36
NG_034143.1:g.162593T>C
NG_034143.2:g.162593T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4208T>C (TTC7A)
ENST00000698503.1:n.2381T>C (TTC7A)
ENST00000698504.1:n.456T>C (TTC7A)
ENST00000319190.11:c.2375T>C (TTC7A) MANE Select	ENSP00000316699.5:p.Leu792Pro
ENST00000651101.1:n.973T>C (TTC7A)
ENST00000651415.1:n.1166T>C (TTC7A)
ENST00000652236.1:n.1076T>C (TTC7A)
ENST00000652568.1:n.1048T>C (TTC7A)
ENST00000319190.9:c.2375T>C (TTC7A)	ENSP00000316699.5:p.Leu792Pro
ENST00000394850.6:c.2447T>C (TTC7A)	ENSP00000378320.2:p.Leu816Pro
ENST00000409245.5:c.2273T>C (TTC7A)	ENSP00000386307.1:p.Leu758Pro
ENST00000409825.5:c.2323T>C (TTC7A)
ENST00000422269.1:c.787-7584A>G
ENST00000441914.5:c.2216T>C (TTC7A)
ENST00000464527.2:n.399-7584A>G (STPG4)
ENST00000482548.1:n.402-5165A>G (STPG4)
ENST00000484061.5:n.1482T>C (TTC7A)
ENST00000491786.5:n.1779T>C (TTC7A)
ENST00000496939.1:n.416-26802A>G (STPG4)
NM_001288951.1:c.2447T>C (TTC7A)	NP_001275880.1:p.Leu816Pro
NM_001288953.1:c.2273T>C (TTC7A)	NP_001275882.1:p.Leu758Pro
NM_001288955.1:c.1313T>C (TTC7A)	NP_001275884.1:p.Leu438Pro
NM_020458.3:c.2375T>C (TTC7A)	NP_065191.2:p.Leu792Pro
XM_005264439.2:c.2018T>C (TTC7A)	XP_005264496.1:p.Leu673Pro
XM_011532998.1:c.2018T>C (TTC7A)	XP_011531300.1:p.Leu673Pro
XM_011533000.1:c.1595T>C (TTC7A)	XP_011531302.1:p.Leu532Pro
XM_011533001.1:c.1328T>C (TTC7A)	XP_011531303.1:p.Leu443Pro
XM_005264439.4:c.2018T>C (TTC7A)	XP_005264496.1:p.Leu673Pro
XM_011532998.3:c.2018T>C (TTC7A)	XP_011531300.1:p.Leu673Pro
XM_011533000.3:c.1595T>C (TTC7A)	XP_011531302.1:p.Leu532Pro
XM_011533001.3:c.1328T>C (TTC7A)	XP_011531303.1:p.Leu443Pro
XM_017004524.1:c.2258T>C (TTC7A)	XP_016860013.1:p.Leu753Pro
XM_017004525.1:c.2207T>C (TTC7A)	XP_016860014.1:p.Leu736Pro
XM_017004526.1:c.2126T>C (TTC7A)	XP_016860015.1:p.Leu709Pro
XM_024453013.1:c.1340T>C (TTC7A)	XP_024308781.1:p.Leu447Pro
NM_020458.4:c.2375T>C (TTC7A) MANE Select	NP_065191.2:p.Leu792Pro
NM_001288951.2:c.2447T>C (TTC7A)	NP_001275880.1:p.Leu816Pro
NM_001288953.2:c.2273T>C (TTC7A)	NP_001275882.1:p.Leu758Pro
NM_001288955.2:c.1313T>C (TTC7A)	NP_001275884.1:p.Leu438Pro