Canonical Allele Identifier: CA1648139

Gene: TTC7A STPG4

Linked Data

• ClinVar Variation Id: 1053901
• ClinVar RCV Id: RCV001362309
• dbSNP Id: rs763453786
• ExAC: 2:47300857 G / A
• gnomAD v2: 2-47300857-G-A
• gnomAD v3: 2-47073718-G-A
• gnomAD v4: 2-47073718-G-A
• MyVariant Identifiers: chr2:g.47300857G>A (hg19) ; chr2:g.47073718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073718G>A , CM000664.2:g.47073718G>A	GRCh38
NC_000002.11:g.47300857G>A , CM000664.1:g.47300857G>A	GRCh37
NC_000002.10:g.47154361G>A	NCBI36
NG_034143.1:g.162590G>A
NG_034143.2:g.162590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4205G>A (TTC7A)
ENST00000698503.1:n.2378G>A (TTC7A)
ENST00000698504.1:n.453G>A (TTC7A)
ENST00000319190.11:c.2372G>A (TTC7A) MANE Select	ENSP00000316699.5:p.Arg791Gln
ENST00000651101.1:n.970G>A (TTC7A)
ENST00000651415.1:n.1163G>A (TTC7A)
ENST00000652236.1:n.1073G>A (TTC7A)
ENST00000652568.1:n.1045G>A (TTC7A)
ENST00000319190.9:c.2372G>A (TTC7A)	ENSP00000316699.5:p.Arg791Gln
ENST00000394850.6:c.2444G>A (TTC7A)	ENSP00000378320.2:p.Arg815Gln
ENST00000409245.5:c.2270G>A (TTC7A)	ENSP00000386307.1:p.Arg757Gln
ENST00000409825.5:c.2320G>A (TTC7A)
ENST00000422269.1:c.787-7581C>T
ENST00000441914.5:c.2213G>A (TTC7A)
ENST00000464527.2:n.399-7581C>T (STPG4)
ENST00000482548.1:n.402-5162C>T (STPG4)
ENST00000484061.5:n.1479G>A (TTC7A)
ENST00000491786.5:n.1776G>A (TTC7A)
ENST00000496939.1:n.416-26799C>T (STPG4)
NM_001288951.1:c.2444G>A (TTC7A)	NP_001275880.1:p.Arg815Gln
NM_001288953.1:c.2270G>A (TTC7A)	NP_001275882.1:p.Arg757Gln
NM_001288955.1:c.1310G>A (TTC7A)	NP_001275884.1:p.Arg437Gln
NM_020458.3:c.2372G>A (TTC7A)	NP_065191.2:p.Arg791Gln
XM_005264439.2:c.2015G>A (TTC7A)	XP_005264496.1:p.Arg672Gln
XM_011532998.1:c.2015G>A (TTC7A)	XP_011531300.1:p.Arg672Gln
XM_011533000.1:c.1592G>A (TTC7A)	XP_011531302.1:p.Arg531Gln
XM_011533001.1:c.1325G>A (TTC7A)	XP_011531303.1:p.Arg442Gln
XM_005264439.4:c.2015G>A (TTC7A)	XP_005264496.1:p.Arg672Gln
XM_011532998.3:c.2015G>A (TTC7A)	XP_011531300.1:p.Arg672Gln
XM_011533000.3:c.1592G>A (TTC7A)	XP_011531302.1:p.Arg531Gln
XM_011533001.3:c.1325G>A (TTC7A)	XP_011531303.1:p.Arg442Gln
XM_017004524.1:c.2255G>A (TTC7A)	XP_016860013.1:p.Arg752Gln
XM_017004525.1:c.2204G>A (TTC7A)	XP_016860014.1:p.Arg735Gln
XM_017004526.1:c.2123G>A (TTC7A)	XP_016860015.1:p.Arg708Gln
XM_024453013.1:c.1337G>A (TTC7A)	XP_024308781.1:p.Arg446Gln
NM_020458.4:c.2372G>A (TTC7A) MANE Select	NP_065191.2:p.Arg791Gln
NM_001288951.2:c.2444G>A (TTC7A)	NP_001275880.1:p.Arg815Gln
NM_001288953.2:c.2270G>A (TTC7A)	NP_001275882.1:p.Arg757Gln
NM_001288955.2:c.1310G>A (TTC7A)	NP_001275884.1:p.Arg437Gln