Canonical Allele Identifier: CA346718110

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47301009C>A (hg19) ; chr2:g.47073870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073870C>A , CM000664.2:g.47073870C>A	GRCh38
NC_000002.11:g.47301009C>A , CM000664.1:g.47301009C>A	GRCh37
NC_000002.10:g.47154513C>A	NCBI36
NG_034143.1:g.162742C>A
NG_034143.2:g.162742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4357C>A (TTC7A)
ENST00000698503.1:n.2530C>A (TTC7A)
ENST00000319190.11:c.2524C>A (TTC7A) MANE Select	ENSP00000316699.5:p.Leu842Met
ENST00000651101.1:n.1122C>A (TTC7A)
ENST00000651415.1:n.1315C>A (TTC7A)
ENST00000652236.1:n.1225C>A (TTC7A)
ENST00000652568.1:n.1197C>A (TTC7A)
ENST00000319190.9:c.2524C>A (TTC7A)	ENSP00000316699.5:p.Leu842Met
ENST00000394850.6:c.2596C>A (TTC7A)	ENSP00000378320.2:p.Leu866Met
ENST00000409245.5:c.2422C>A (TTC7A)	ENSP00000386307.1:p.Leu808Met
ENST00000409825.5:c.2472C>A (TTC7A)
ENST00000422269.1:c.787-7733G>T
ENST00000441914.5:c.2365C>A (TTC7A)
ENST00000464527.2:n.399-7733G>T (STPG4)
ENST00000482548.1:n.402-5314G>T (STPG4)
ENST00000484061.5:n.1631C>A (TTC7A)
ENST00000491786.5:n.1928C>A (TTC7A)
ENST00000496939.1:n.416-26951G>T (STPG4)
NM_001288951.1:c.2596C>A (TTC7A)	NP_001275880.1:p.Leu866Met
NM_001288953.1:c.2422C>A (TTC7A)	NP_001275882.1:p.Leu808Met
NM_001288955.1:c.1462C>A (TTC7A)	NP_001275884.1:p.Leu488Met
NM_020458.3:c.2524C>A (TTC7A)	NP_065191.2:p.Leu842Met
XM_005264439.2:c.2167C>A (TTC7A)	XP_005264496.1:p.Leu723Met
XM_011532998.1:c.2167C>A (TTC7A)	XP_011531300.1:p.Leu723Met
XM_011533000.1:c.1744C>A (TTC7A)	XP_011531302.1:p.Leu582Met
XM_011533001.1:c.1477C>A (TTC7A)	XP_011531303.1:p.Leu493Met
XM_005264439.4:c.2167C>A (TTC7A)	XP_005264496.1:p.Leu723Met
XM_011532998.3:c.2167C>A (TTC7A)	XP_011531300.1:p.Leu723Met
XM_011533000.3:c.1744C>A (TTC7A)	XP_011531302.1:p.Leu582Met
XM_011533001.3:c.1477C>A (TTC7A)	XP_011531303.1:p.Leu493Met
XM_017004524.1:c.2407C>A (TTC7A)	XP_016860013.1:p.Leu803Met
XM_017004525.1:c.2356C>A (TTC7A)	XP_016860014.1:p.Leu786Met
XM_017004526.1:c.2275C>A (TTC7A)	XP_016860015.1:p.Leu759Met
XM_024453013.1:c.1489C>A (TTC7A)	XP_024308781.1:p.Leu497Met
NM_020458.4:c.2524C>A (TTC7A) MANE Select	NP_065191.2:p.Leu842Met
NM_001288951.2:c.2596C>A (TTC7A)	NP_001275880.1:p.Leu866Met
NM_001288953.2:c.2422C>A (TTC7A)	NP_001275882.1:p.Leu808Met
NM_001288955.2:c.1462C>A (TTC7A)	NP_001275884.1:p.Leu488Met