Canonical Allele Identifier: CA346718020

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs1684986898
• gnomAD v4: 2-47073825-G-C
• MyVariant Identifiers: chr2:g.47300964G>C (hg19) ; chr2:g.47073825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073825G>C , CM000664.2:g.47073825G>C	GRCh38
NC_000002.11:g.47300964G>C , CM000664.1:g.47300964G>C	GRCh37
NC_000002.10:g.47154468G>C	NCBI36
NG_034143.1:g.162697G>C
NG_034143.2:g.162697G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4312G>C (TTC7A)
ENST00000698503.1:n.2485G>C (TTC7A)
ENST00000319190.11:c.2479G>C (TTC7A) MANE Select	ENSP00000316699.5:p.Gly827Arg
ENST00000651101.1:n.1077G>C (TTC7A)
ENST00000651415.1:n.1270G>C (TTC7A)
ENST00000652236.1:n.1180G>C (TTC7A)
ENST00000652568.1:n.1152G>C (TTC7A)
ENST00000319190.9:c.2479G>C (TTC7A)	ENSP00000316699.5:p.Gly827Arg
ENST00000394850.6:c.2551G>C (TTC7A)	ENSP00000378320.2:p.Gly851Arg
ENST00000409245.5:c.2377G>C (TTC7A)	ENSP00000386307.1:p.Gly793Arg
ENST00000409825.5:c.2427G>C (TTC7A)
ENST00000422269.1:c.787-7688C>G
ENST00000441914.5:c.2320G>C (TTC7A)
ENST00000464527.2:n.399-7688C>G (STPG4)
ENST00000482548.1:n.402-5269C>G (STPG4)
ENST00000484061.5:n.1586G>C (TTC7A)
ENST00000491786.5:n.1883G>C (TTC7A)
ENST00000496939.1:n.416-26906C>G (STPG4)
NM_001288951.1:c.2551G>C (TTC7A)	NP_001275880.1:p.Gly851Arg
NM_001288953.1:c.2377G>C (TTC7A)	NP_001275882.1:p.Gly793Arg
NM_001288955.1:c.1417G>C (TTC7A)	NP_001275884.1:p.Gly473Arg
NM_020458.3:c.2479G>C (TTC7A)	NP_065191.2:p.Gly827Arg
XM_005264439.2:c.2122G>C (TTC7A)	XP_005264496.1:p.Gly708Arg
XM_011532998.1:c.2122G>C (TTC7A)	XP_011531300.1:p.Gly708Arg
XM_011533000.1:c.1699G>C (TTC7A)	XP_011531302.1:p.Gly567Arg
XM_011533001.1:c.1432G>C (TTC7A)	XP_011531303.1:p.Gly478Arg
XM_005264439.4:c.2122G>C (TTC7A)	XP_005264496.1:p.Gly708Arg
XM_011532998.3:c.2122G>C (TTC7A)	XP_011531300.1:p.Gly708Arg
XM_011533000.3:c.1699G>C (TTC7A)	XP_011531302.1:p.Gly567Arg
XM_011533001.3:c.1432G>C (TTC7A)	XP_011531303.1:p.Gly478Arg
XM_017004524.1:c.2362G>C (TTC7A)	XP_016860013.1:p.Gly788Arg
XM_017004525.1:c.2311G>C (TTC7A)	XP_016860014.1:p.Gly771Arg
XM_017004526.1:c.2230G>C (TTC7A)	XP_016860015.1:p.Gly744Arg
XM_024453013.1:c.1444G>C (TTC7A)	XP_024308781.1:p.Gly482Arg
NM_020458.4:c.2479G>C (TTC7A) MANE Select	NP_065191.2:p.Gly827Arg
NM_001288951.2:c.2551G>C (TTC7A)	NP_001275880.1:p.Gly851Arg
NM_001288953.2:c.2377G>C (TTC7A)	NP_001275882.1:p.Gly793Arg
NM_001288955.2:c.1417G>C (TTC7A)	NP_001275884.1:p.Gly473Arg