Canonical Allele Identifier: CA163421

Gene: TTC7A

Linked Data

• ClinVar Variation Id: 140578
• ClinVar RCV Id: RCV000128795
• dbSNP Id: rs587777548
• MyVariant Identifiers: chr2:g.47222281C>G (hg19) ; chr2:g.46995142C>G (hg38)
• PubMed: PMID:24292712

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46995142C>G , CM000664.2:g.46995142C>G	GRCh38
NC_000002.11:g.47222281C>G , CM000664.1:g.47222281C>G	GRCh37
NC_000002.10:g.47075785C>G	NCBI36
NG_034143.1:g.84014C>G
NG_034143.2:g.84014C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.2841C>G
ENST00000319190.11:c.1008C>G MANE Select	ENSP00000316699.5:p.Tyr336Ter
ENST00000319190.9:c.1008C>G	ENSP00000316699.5:p.Tyr336Ter
ENST00000394850.6:c.1008C>G	ENSP00000378320.2:p.Tyr336Ter
ENST00000409245.5:c.906C>G	ENSP00000386307.1:p.Tyr302Ter
ENST00000409825.5:c.956C>G
ENST00000441914.5:c.849C>G
ENST00000461601.5:n.1333C>G
ENST00000474321.6:n.492C>G
ENST00000484061.5:n.291C>G
ENST00000491786.5:n.412C>G
NM_001288951.1:c.1008C>G	NP_001275880.1:p.Tyr336Ter
NM_001288953.1:c.906C>G	NP_001275882.1:p.Tyr302Ter
NM_001288955.1:c.-55C>G	NP_001275884.1:n.-55C>G
NM_020458.3:c.1008C>G	NP_065191.2:p.Tyr336Ter
XM_005264439.2:c.651C>G	XP_005264496.1:p.Tyr217Ter
XM_011532998.1:c.651C>G	XP_011531300.1:p.Tyr217Ter
XM_011532999.1:c.1008C>G	XP_011531301.1:p.Tyr336Ter
XM_011533000.1:c.228C>G	XP_011531302.1:p.Tyr76Ter
XR_939696.1:n.1313C>G
XM_005264439.4:c.651C>G	XP_005264496.1:p.Tyr217Ter
XM_011532998.3:c.651C>G	XP_011531300.1:p.Tyr217Ter
XM_011532999.2:c.1008C>G	XP_011531301.1:p.Tyr336Ter
XM_011533000.3:c.228C>G	XP_011531302.1:p.Tyr76Ter
XM_017004524.1:c.1008C>G	XP_016860013.1:p.Tyr336Ter
XM_017004525.1:c.840C>G	XP_016860014.1:p.Tyr280Ter
XM_017004526.1:c.1008C>G	XP_016860015.1:p.Tyr336Ter
XM_017004529.1:c.1008C>G	XP_016860018.1:p.Tyr336Ter
XR_001738853.2:n.1320C>G
XR_001738854.1:n.1319C>G
NM_020458.4:c.1008C>G MANE Select	NP_065191.2:p.Tyr336Ter
NM_001288951.2:c.1008C>G	NP_001275880.1:p.Tyr336Ter
NM_001288953.2:c.906C>G	NP_001275882.1:p.Tyr302Ter
NM_001288955.2:c.-55C>G	NP_001275884.1:n.-55C>G