Canonical Allele Identifier: CA346722756

Gene: TTC7A

Linked Data

• ClinVar Variation Id: 1699976
• ClinVar RCV Id: RCV002273916
• dbSNP Id: rs1233340344
• MyVariant Identifiers: chr2:g.47202110A>T (hg19) ; chr2:g.46974971A>T (hg38)
• MutSpliceDB: CA346722756

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46974971A>T , CM000664.2:g.46974971A>T	GRCh38
NC_000002.11:g.47202110A>T , CM000664.1:g.47202110A>T	GRCh37
NC_000002.10:g.47055614A>T	NCBI36
NG_034143.1:g.63843A>T
NG_034143.2:g.63843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.1523-2A>T
ENST00000319190.11:c.518-2A>T MANE Select	ENSP00000316699.5:n.518-2A>T
ENST00000319190.9:c.518-2A>T	ENSP00000316699.5:n.518-2A>T
ENST00000394850.6:c.518-2A>T	ENSP00000378320.2:n.518-2A>T
ENST00000409245.5:c.416-2A>T	ENSP00000386307.1:n.416-2A>T
ENST00000409825.5:c.466-2A>T
ENST00000441914.5:c.517-2A>T
ENST00000461601.5:n.843-2A>T
NM_001288951.1:c.518-2A>T	NP_001275880.1:n.518-2A>T
NM_001288953.1:c.416-2A>T	NP_001275882.1:n.416-2A>T
NM_001288955.1:c.-387-2A>T	NP_001275884.1:n.-387-2A>T
NM_020458.3:c.518-2A>T	NP_065191.2:n.518-2A>T
XM_005264439.2:c.161-2A>T	XP_005264496.1:n.161-2A>T
XM_011532998.1:c.161-2A>T	XP_011531300.1:n.161-2A>T
XM_011532999.1:c.518-2A>T	XP_011531301.1:n.518-2A>T
XR_939696.1:n.823-2A>T
XM_005264439.4:c.161-2A>T	XP_005264496.1:n.161-2A>T
XM_011532998.3:c.161-2A>T	XP_011531300.1:n.161-2A>T
XM_011532999.2:c.518-2A>T	XP_011531301.1:n.518-2A>T
XM_017004524.1:c.518-2A>T	XP_016860013.1:n.518-2A>T
XM_017004525.1:c.350-2A>T	XP_016860014.1:n.350-2A>T
XM_017004526.1:c.518-2A>T	XP_016860015.1:n.518-2A>T
XM_017004529.1:c.518-2A>T	XP_016860018.1:n.518-2A>T
XR_001738853.2:n.830-2A>T
XR_001738854.1:n.829-2A>T
NM_020458.4:c.518-2A>T MANE Select	NP_065191.2:n.518-2A>T
NM_001288951.2:c.518-2A>T	NP_001275880.1:n.518-2A>T
NM_001288953.2:c.416-2A>T	NP_001275882.1:n.416-2A>T
NM_001288955.2:c.-387-2A>T	NP_001275884.1:n.-387-2A>T