Canonical Allele Identifier: CA46619306

Gene: TTC7A

Linked Data

• dbSNP Id: rs951595558
• MyVariant Identifiers: chr2:g.47177455C>T (hg19) ; chr2:g.46950316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950316C>T , CM000664.2:g.46950316C>T	GRCh38
NC_000002.11:g.47177455C>T , CM000664.1:g.47177455C>T	GRCh37
NC_000002.10:g.47030959C>T	NCBI36
NG_034143.1:g.39188C>T
NG_034143.2:g.39188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.804-47C>T
ENST00000698501.1:n.506-47C>T
ENST00000698502.1:n.166-47C>T
ENST00000319190.11:c.185-47C>T MANE Select	ENSP00000316699.5:n.185-47C>T
ENST00000319190.9:c.185-47C>T	ENSP00000316699.5:n.185-47C>T
ENST00000394850.6:c.185-47C>T	ENSP00000378320.2:n.185-47C>T
ENST00000409245.5:c.83-47C>T	ENSP00000386307.1:n.83-47C>T
ENST00000441914.5:c.184-47C>T
ENST00000461601.5:n.452-47C>T
NM_001288951.1:c.185-47C>T	NP_001275880.1:n.185-47C>T
NM_001288953.1:c.83-47C>T	NP_001275882.1:n.83-47C>T
NM_001288955.1:c.-720-47C>T	NP_001275884.1:n.-720-47C>T
NM_020458.3:c.185-47C>T	NP_065191.2:n.185-47C>T
XM_011532999.1:c.185-47C>T	XP_011531301.1:n.185-47C>T
XR_939696.1:n.490-47C>T
XM_005264439.4:c.-231-47C>T	XP_005264496.1:n.-231-47C>T
XM_011532998.3:c.-296-47C>T	XP_011531300.1:n.-296-47C>T
XM_011532999.2:c.185-47C>T	XP_011531301.1:n.185-47C>T
XM_017004524.1:c.185-47C>T	XP_016860013.1:n.185-47C>T
XM_017004525.1:c.17-47C>T	XP_016860014.1:n.17-47C>T
XM_017004526.1:c.185-47C>T	XP_016860015.1:n.185-47C>T
XM_017004529.1:c.185-47C>T	XP_016860018.1:n.185-47C>T
XR_001738853.2:n.497-47C>T
XR_001738854.1:n.496-47C>T
NM_020458.4:c.185-47C>T MANE Select	NP_065191.2:n.185-47C>T
NM_001288951.2:c.185-47C>T	NP_001275880.1:n.185-47C>T
NM_001288953.2:c.83-47C>T	NP_001275882.1:n.83-47C>T
NM_001288955.2:c.-720-47C>T	NP_001275884.1:n.-720-47C>T