Canonical Allele Identifier: CA346718013

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47300961C>T (hg19) ; chr2:g.47073822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073822C>T , CM000664.2:g.47073822C>T	GRCh38
NC_000002.11:g.47300961C>T , CM000664.1:g.47300961C>T	GRCh37
NC_000002.10:g.47154465C>T	NCBI36
NG_034143.1:g.162694C>T
NG_034143.2:g.162694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4309C>T (TTC7A)
ENST00000698503.1:n.2482C>T (TTC7A)
ENST00000319190.11:c.2476C>T (TTC7A) MANE Select	ENSP00000316699.5:p.Gln826Ter
ENST00000651101.1:n.1074C>T (TTC7A)
ENST00000651415.1:n.1267C>T (TTC7A)
ENST00000652236.1:n.1177C>T (TTC7A)
ENST00000652568.1:n.1149C>T (TTC7A)
ENST00000319190.9:c.2476C>T (TTC7A)	ENSP00000316699.5:p.Gln826Ter
ENST00000394850.6:c.2548C>T (TTC7A)	ENSP00000378320.2:p.Gln850Ter
ENST00000409245.5:c.2374C>T (TTC7A)	ENSP00000386307.1:p.Gln792Ter
ENST00000409825.5:c.2424C>T (TTC7A)
ENST00000422269.1:c.787-7685G>A
ENST00000441914.5:c.2317C>T (TTC7A)
ENST00000464527.2:n.399-7685G>A (STPG4)
ENST00000482548.1:n.402-5266G>A (STPG4)
ENST00000484061.5:n.1583C>T (TTC7A)
ENST00000491786.5:n.1880C>T (TTC7A)
ENST00000496939.1:n.416-26903G>A (STPG4)
NM_001288951.1:c.2548C>T (TTC7A)	NP_001275880.1:p.Gln850Ter
NM_001288953.1:c.2374C>T (TTC7A)	NP_001275882.1:p.Gln792Ter
NM_001288955.1:c.1414C>T (TTC7A)	NP_001275884.1:p.Gln472Ter
NM_020458.3:c.2476C>T (TTC7A)	NP_065191.2:p.Gln826Ter
XM_005264439.2:c.2119C>T (TTC7A)	XP_005264496.1:p.Gln707Ter
XM_011532998.1:c.2119C>T (TTC7A)	XP_011531300.1:p.Gln707Ter
XM_011533000.1:c.1696C>T (TTC7A)	XP_011531302.1:p.Gln566Ter
XM_011533001.1:c.1429C>T (TTC7A)	XP_011531303.1:p.Gln477Ter
XM_005264439.4:c.2119C>T (TTC7A)	XP_005264496.1:p.Gln707Ter
XM_011532998.3:c.2119C>T (TTC7A)	XP_011531300.1:p.Gln707Ter
XM_011533000.3:c.1696C>T (TTC7A)	XP_011531302.1:p.Gln566Ter
XM_011533001.3:c.1429C>T (TTC7A)	XP_011531303.1:p.Gln477Ter
XM_017004524.1:c.2359C>T (TTC7A)	XP_016860013.1:p.Gln787Ter
XM_017004525.1:c.2308C>T (TTC7A)	XP_016860014.1:p.Gln770Ter
XM_017004526.1:c.2227C>T (TTC7A)	XP_016860015.1:p.Gln743Ter
XM_024453013.1:c.1441C>T (TTC7A)	XP_024308781.1:p.Gln481Ter
NM_020458.4:c.2476C>T (TTC7A) MANE Select	NP_065191.2:p.Gln826Ter
NM_001288951.2:c.2548C>T (TTC7A)	NP_001275880.1:p.Gln850Ter
NM_001288953.2:c.2374C>T (TTC7A)	NP_001275882.1:p.Gln792Ter
NM_001288955.2:c.1414C>T (TTC7A)	NP_001275884.1:p.Gln472Ter