Canonical Allele Identifier: CA346718978

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46957008G>C , CM000664.2:g.46957008G>C	GRCh38
NC_000002.11:g.47184147G>C , CM000664.1:g.47184147G>C	GRCh37
NC_000002.10:g.47037651G>C	NCBI36
NG_034143.1:g.45880G>C
NG_034143.2:g.45880G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.517+1G>C MANE Select	NP_065191.2:n.517+1G>C
ENST00000319190.11:c.517+1G>C MANE Select	ENSP00000316699.5:n.517+1G>C
NM_001288951.1:c.517+1G>C	NP_001275880.1:n.517+1G>C
NM_001288951.2:c.517+1G>C	NP_001275880.1:n.517+1G>C
NM_001288953.1:c.415+1G>C	NP_001275882.1:n.415+1G>C
NM_001288953.2:c.415+1G>C	NP_001275882.1:n.415+1G>C
NM_001288955.1:c.-388+1G>C	NP_001275884.1:n.-388+1G>C
NM_001288955.2:c.-388+1G>C	NP_001275884.1:n.-388+1G>C
NM_020458.3:c.517+1G>C	NP_065191.2:n.517+1G>C
ENST00000319190.9:c.517+1G>C	ENSP00000316699.5:n.517+1G>C
ENST00000394850.6:c.517+1G>C	ENSP00000378320.2:n.517+1G>C
ENST00000409245.5:c.415+1G>C	ENSP00000386307.1:n.415+1G>C
ENST00000409825.5:c.407+1G>C
ENST00000441914.5:c.516+1G>C
ENST00000461601.5:n.784+1G>C
ENST00000698500.1:n.1464+1G>C
XM_005264439.2:c.102+1G>C	XP_005264496.1:n.102+1G>C
XM_005264439.4:c.102+1G>C	XP_005264496.1:n.102+1G>C
XM_011532998.1:c.102+1G>C	XP_011531300.1:n.102+1G>C
XM_011532998.3:c.102+1G>C	XP_011531300.1:n.102+1G>C
XM_011532999.1:c.517+1G>C	XP_011531301.1:n.517+1G>C
XM_011532999.2:c.517+1G>C	XP_011531301.1:n.517+1G>C
XM_017004524.1:c.517+1G>C	XP_016860013.1:n.517+1G>C
XM_017004525.1:c.349+1G>C	XP_016860014.1:n.349+1G>C
XM_017004526.1:c.517+1G>C	XP_016860015.1:n.517+1G>C
XM_017004529.1:c.517+1G>C	XP_016860018.1:n.517+1G>C
XR_001738853.2:n.829+1G>C
XR_001738854.1:n.828+1G>C
XR_939696.1:n.822+1G>C