Canonical Allele Identifier: CA346718030

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300968A>T (hg19) ; chr2:g.47073829A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073829A>T , CM000664.2:g.47073829A>T	GRCh38
NC_000002.11:g.47300968A>T , CM000664.1:g.47300968A>T	GRCh37
NC_000002.10:g.47154472A>T	NCBI36
NG_034143.1:g.162701A>T
NG_034143.2:g.162701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4316A>T (TTC7A)
ENST00000698503.1:n.2489A>T (TTC7A)
ENST00000319190.11:c.2483A>T (TTC7A) MANE Select	ENSP00000316699.5:p.Gln828Leu
ENST00000651101.1:n.1081A>T (TTC7A)
ENST00000651415.1:n.1274A>T (TTC7A)
ENST00000652236.1:n.1184A>T (TTC7A)
ENST00000652568.1:n.1156A>T (TTC7A)
ENST00000319190.9:c.2483A>T (TTC7A)	ENSP00000316699.5:p.Gln828Leu
ENST00000394850.6:c.2555A>T (TTC7A)	ENSP00000378320.2:p.Gln852Leu
ENST00000409245.5:c.2381A>T (TTC7A)	ENSP00000386307.1:p.Gln794Leu
ENST00000409825.5:c.2431A>T (TTC7A)
ENST00000422269.1:c.787-7692T>A
ENST00000441914.5:c.2324A>T (TTC7A)
ENST00000464527.2:n.399-7692T>A (STPG4)
ENST00000482548.1:n.402-5273T>A (STPG4)
ENST00000484061.5:n.1590A>T (TTC7A)
ENST00000491786.5:n.1887A>T (TTC7A)
ENST00000496939.1:n.416-26910T>A (STPG4)
NM_001288951.1:c.2555A>T (TTC7A)	NP_001275880.1:p.Gln852Leu
NM_001288953.1:c.2381A>T (TTC7A)	NP_001275882.1:p.Gln794Leu
NM_001288955.1:c.1421A>T (TTC7A)	NP_001275884.1:p.Gln474Leu
NM_020458.3:c.2483A>T (TTC7A)	NP_065191.2:p.Gln828Leu
XM_005264439.2:c.2126A>T (TTC7A)	XP_005264496.1:p.Gln709Leu
XM_011532998.1:c.2126A>T (TTC7A)	XP_011531300.1:p.Gln709Leu
XM_011533000.1:c.1703A>T (TTC7A)	XP_011531302.1:p.Gln568Leu
XM_011533001.1:c.1436A>T (TTC7A)	XP_011531303.1:p.Gln479Leu
XM_005264439.4:c.2126A>T (TTC7A)	XP_005264496.1:p.Gln709Leu
XM_011532998.3:c.2126A>T (TTC7A)	XP_011531300.1:p.Gln709Leu
XM_011533000.3:c.1703A>T (TTC7A)	XP_011531302.1:p.Gln568Leu
XM_011533001.3:c.1436A>T (TTC7A)	XP_011531303.1:p.Gln479Leu
XM_017004524.1:c.2366A>T (TTC7A)	XP_016860013.1:p.Gln789Leu
XM_017004525.1:c.2315A>T (TTC7A)	XP_016860014.1:p.Gln772Leu
XM_017004526.1:c.2234A>T (TTC7A)	XP_016860015.1:p.Gln745Leu
XM_024453013.1:c.1448A>T (TTC7A)	XP_024308781.1:p.Gln483Leu
NM_020458.4:c.2483A>T (TTC7A) MANE Select	NP_065191.2:p.Gln828Leu
NM_001288951.2:c.2555A>T (TTC7A)	NP_001275880.1:p.Gln852Leu
NM_001288953.2:c.2381A>T (TTC7A)	NP_001275882.1:p.Gln794Leu
NM_001288955.2:c.1421A>T (TTC7A)	NP_001275884.1:p.Gln474Leu