Canonical Allele Identifier: CA1647523

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47006045G>A , CM000664.2:g.47006045G>A	GRCh38
NC_000002.11:g.47233184G>A , CM000664.1:g.47233184G>A	GRCh37
NC_000002.10:g.47086688G>A	NCBI36
NG_034143.1:g.94917G>A
NG_034143.2:g.94917G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1189G>A MANE Select	NP_065191.2:p.Val397Ile
ENST00000319190.11:c.1189G>A MANE Select	ENSP00000316699.5:p.Val397Ile
NM_001288951.1:c.1189G>A	NP_001275880.1:p.Val397Ile
NM_001288951.2:c.1189G>A	NP_001275880.1:p.Val397Ile
NM_001288953.1:c.1087G>A	NP_001275882.1:p.Val363Ile
NM_001288953.2:c.1087G>A	NP_001275882.1:p.Val363Ile
NM_001288955.1:c.127G>A	NP_001275884.1:p.Val43Ile
NM_001288955.2:c.127G>A	NP_001275884.1:p.Val43Ile
NM_020458.3:c.1189G>A	NP_065191.2:p.Val397Ile
ENST00000319190.9:c.1189G>A	ENSP00000316699.5:p.Val397Ile
ENST00000394850.6:c.1189G>A	ENSP00000378320.2:p.Val397Ile
ENST00000409245.5:c.1087G>A	ENSP00000386307.1:p.Val363Ile
ENST00000409825.5:c.1137G>A
ENST00000440051.1:c.114G>A
ENST00000441914.5:c.1030G>A
ENST00000461601.5:n.1514G>A
ENST00000484061.5:n.472G>A
ENST00000491786.5:n.593G>A
ENST00000698500.1:n.3022G>A
XM_005264439.2:c.832G>A	XP_005264496.1:p.Val278Ile
XM_005264439.4:c.832G>A	XP_005264496.1:p.Val278Ile
XM_011532998.1:c.832G>A	XP_011531300.1:p.Val278Ile
XM_011532998.3:c.832G>A	XP_011531300.1:p.Val278Ile
XM_011532999.1:c.1189G>A	XP_011531301.1:p.Val397Ile
XM_011532999.2:c.1189G>A	XP_011531301.1:p.Val397Ile
XM_011533000.1:c.409G>A	XP_011531302.1:p.Val137Ile
XM_011533000.3:c.409G>A	XP_011531302.1:p.Val137Ile
XM_011533001.1:c.142G>A	XP_011531303.1:p.Val48Ile
XM_011533001.3:c.142G>A	XP_011531303.1:p.Val48Ile
XM_017004524.1:c.1189G>A	XP_016860013.1:p.Val397Ile
XM_017004525.1:c.1021G>A	XP_016860014.1:p.Val341Ile
XM_017004526.1:c.1189G>A	XP_016860015.1:p.Val397Ile
XM_017004529.1:c.1189G>A	XP_016860018.1:p.Val397Ile
XM_024453013.1:c.154G>A	XP_024308781.1:p.Val52Ile
XR_001738853.2:n.1501G>A
XR_001738854.1:n.1500G>A
XR_939696.1:n.1494G>A