Canonical Allele Identifier: CA346717587

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47073738-G-T
• MyVariant Identifiers: chr2:g.47300877G>T (hg19) ; chr2:g.47073738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073738G>T , CM000664.2:g.47073738G>T	GRCh38
NC_000002.11:g.47300877G>T , CM000664.1:g.47300877G>T	GRCh37
NC_000002.10:g.47154381G>T	NCBI36
NG_034143.1:g.162610G>T
NG_034143.2:g.162610G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4225G>T (TTC7A)
ENST00000698503.1:n.2398G>T (TTC7A)
ENST00000698504.1:n.473G>T (TTC7A)
ENST00000319190.11:c.2392G>T (TTC7A) MANE Select	ENSP00000316699.5:p.Ala798Ser
ENST00000651101.1:n.990G>T (TTC7A)
ENST00000651415.1:n.1183G>T (TTC7A)
ENST00000652236.1:n.1093G>T (TTC7A)
ENST00000652568.1:n.1065G>T (TTC7A)
ENST00000319190.9:c.2392G>T (TTC7A)	ENSP00000316699.5:p.Ala798Ser
ENST00000394850.6:c.2464G>T (TTC7A)	ENSP00000378320.2:p.Ala822Ser
ENST00000409245.5:c.2290G>T (TTC7A)	ENSP00000386307.1:p.Ala764Ser
ENST00000409825.5:c.2340G>T (TTC7A)
ENST00000422269.1:c.787-7601C>A
ENST00000441914.5:c.2233G>T (TTC7A)
ENST00000464527.2:n.399-7601C>A (STPG4)
ENST00000482548.1:n.402-5182C>A (STPG4)
ENST00000484061.5:n.1499G>T (TTC7A)
ENST00000491786.5:n.1796G>T (TTC7A)
ENST00000496939.1:n.416-26819C>A (STPG4)
NM_001288951.1:c.2464G>T (TTC7A)	NP_001275880.1:p.Ala822Ser
NM_001288953.1:c.2290G>T (TTC7A)	NP_001275882.1:p.Ala764Ser
NM_001288955.1:c.1330G>T (TTC7A)	NP_001275884.1:p.Ala444Ser
NM_020458.3:c.2392G>T (TTC7A)	NP_065191.2:p.Ala798Ser
XM_005264439.2:c.2035G>T (TTC7A)	XP_005264496.1:p.Ala679Ser
XM_011532998.1:c.2035G>T (TTC7A)	XP_011531300.1:p.Ala679Ser
XM_011533000.1:c.1612G>T (TTC7A)	XP_011531302.1:p.Ala538Ser
XM_011533001.1:c.1345G>T (TTC7A)	XP_011531303.1:p.Ala449Ser
XM_005264439.4:c.2035G>T (TTC7A)	XP_005264496.1:p.Ala679Ser
XM_011532998.3:c.2035G>T (TTC7A)	XP_011531300.1:p.Ala679Ser
XM_011533000.3:c.1612G>T (TTC7A)	XP_011531302.1:p.Ala538Ser
XM_011533001.3:c.1345G>T (TTC7A)	XP_011531303.1:p.Ala449Ser
XM_017004524.1:c.2275G>T (TTC7A)	XP_016860013.1:p.Ala759Ser
XM_017004525.1:c.2224G>T (TTC7A)	XP_016860014.1:p.Ala742Ser
XM_017004526.1:c.2143G>T (TTC7A)	XP_016860015.1:p.Ala715Ser
XM_024453013.1:c.1357G>T (TTC7A)	XP_024308781.1:p.Ala453Ser
NM_020458.4:c.2392G>T (TTC7A) MANE Select	NP_065191.2:p.Ala798Ser
NM_001288951.2:c.2464G>T (TTC7A)	NP_001275880.1:p.Ala822Ser
NM_001288953.2:c.2290G>T (TTC7A)	NP_001275882.1:p.Ala764Ser
NM_001288955.2:c.1330G>T (TTC7A)	NP_001275884.1:p.Ala444Ser