Canonical Allele Identifier: CA346718025

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300967C>A (hg19) ; chr2:g.47073828C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073828C>A , CM000664.2:g.47073828C>A	GRCh38
NC_000002.11:g.47300967C>A , CM000664.1:g.47300967C>A	GRCh37
NC_000002.10:g.47154471C>A	NCBI36
NG_034143.1:g.162700C>A
NG_034143.2:g.162700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4315C>A (TTC7A)
ENST00000698503.1:n.2488C>A (TTC7A)
ENST00000319190.11:c.2482C>A (TTC7A) MANE Select	ENSP00000316699.5:p.Gln828Lys
ENST00000651101.1:n.1080C>A (TTC7A)
ENST00000651415.1:n.1273C>A (TTC7A)
ENST00000652236.1:n.1183C>A (TTC7A)
ENST00000652568.1:n.1155C>A (TTC7A)
ENST00000319190.9:c.2482C>A (TTC7A)	ENSP00000316699.5:p.Gln828Lys
ENST00000394850.6:c.2554C>A (TTC7A)	ENSP00000378320.2:p.Gln852Lys
ENST00000409245.5:c.2380C>A (TTC7A)	ENSP00000386307.1:p.Gln794Lys
ENST00000409825.5:c.2430C>A (TTC7A)
ENST00000422269.1:c.787-7691G>T
ENST00000441914.5:c.2323C>A (TTC7A)
ENST00000464527.2:n.399-7691G>T (STPG4)
ENST00000482548.1:n.402-5272G>T (STPG4)
ENST00000484061.5:n.1589C>A (TTC7A)
ENST00000491786.5:n.1886C>A (TTC7A)
ENST00000496939.1:n.416-26909G>T (STPG4)
NM_001288951.1:c.2554C>A (TTC7A)	NP_001275880.1:p.Gln852Lys
NM_001288953.1:c.2380C>A (TTC7A)	NP_001275882.1:p.Gln794Lys
NM_001288955.1:c.1420C>A (TTC7A)	NP_001275884.1:p.Gln474Lys
NM_020458.3:c.2482C>A (TTC7A)	NP_065191.2:p.Gln828Lys
XM_005264439.2:c.2125C>A (TTC7A)	XP_005264496.1:p.Gln709Lys
XM_011532998.1:c.2125C>A (TTC7A)	XP_011531300.1:p.Gln709Lys
XM_011533000.1:c.1702C>A (TTC7A)	XP_011531302.1:p.Gln568Lys
XM_011533001.1:c.1435C>A (TTC7A)	XP_011531303.1:p.Gln479Lys
XM_005264439.4:c.2125C>A (TTC7A)	XP_005264496.1:p.Gln709Lys
XM_011532998.3:c.2125C>A (TTC7A)	XP_011531300.1:p.Gln709Lys
XM_011533000.3:c.1702C>A (TTC7A)	XP_011531302.1:p.Gln568Lys
XM_011533001.3:c.1435C>A (TTC7A)	XP_011531303.1:p.Gln479Lys
XM_017004524.1:c.2365C>A (TTC7A)	XP_016860013.1:p.Gln789Lys
XM_017004525.1:c.2314C>A (TTC7A)	XP_016860014.1:p.Gln772Lys
XM_017004526.1:c.2233C>A (TTC7A)	XP_016860015.1:p.Gln745Lys
XM_024453013.1:c.1447C>A (TTC7A)	XP_024308781.1:p.Gln483Lys
NM_020458.4:c.2482C>A (TTC7A) MANE Select	NP_065191.2:p.Gln828Lys
NM_001288951.2:c.2554C>A (TTC7A)	NP_001275880.1:p.Gln852Lys
NM_001288953.2:c.2380C>A (TTC7A)	NP_001275882.1:p.Gln794Lys
NM_001288955.2:c.1420C>A (TTC7A)	NP_001275884.1:p.Gln474Lys