Canonical Allele Identifier: CA1225895

Gene: CD247

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167433036A>G , CM000663.2:g.167433036A>G	GRCh38
NC_000001.10:g.167402273A>G , CM000663.1:g.167402273A>G	GRCh37
NC_000001.9:g.165668897A>G	NCBI36
NG_007384.1:g.90574T>C , LRG_36:g.90574T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198053.3:c.417T>C MANE Select	NP_932170.1:p.Asp139=
ENST00000362089.10:c.417T>C MANE Select	ENSP00000354782.5:p.Asp139=
NM_000734.3:c.414T>C	NP_000725.1:p.Asp138=
NM_000734.4:c.414T>C	NP_000725.1:p.Asp138=
NM_001378515.1:c.510T>C	NP_001365444.1:p.Asp170=
NM_001378516.1:c.507T>C	NP_001365445.1:p.Asp169=
NM_198053.2:c.417T>C , LRG_36t1:c.417T>C	NP_932170.1:p.Asp139=
ENST00000362089.9:c.417T>C	ENSP00000354782.5:p.Asp139=
ENST00000392122.3:c.414T>C	ENSP00000375969.3:p.Asp138=
ENST00000392122.4:c.414T>C	ENSP00000375969.3:p.Asp138=
ENST00000470379.1:n.492T>C
ENST00000470379.2:c.129T>C	ENSP00000514807.1:p.Asp43=
ENST00000476733.5:n.476T>C
ENST00000476733.6:c.132T>C	ENSP00000514806.1:p.Asp44=
ENST00000483825.5:n.1803T>C
ENST00000483825.6:n.1803T>C
ENST00000485089.5:n.71T>C
ENST00000485089.6:c.114T>C	ENSP00000514801.1:p.Asp38=
ENST00000700105.1:c.417T>C	ENSP00000514800.1:p.Asp139=
ENST00000700106.1:c.441T>C	ENSP00000514802.1:p.Asp147=
ENST00000700107.1:c.438T>C	ENSP00000514803.1:p.Asp146=
ENST00000700108.1:c.129T>C	ENSP00000514804.1:p.Asp43=
ENST00000700109.1:c.132T>C	ENSP00000514805.1:p.Asp44=
ENST00000700110.1:n.356T>C
ENST00000700134.1:c.333T>C	ENSP00000514822.1:p.Asp111=
ENST00000700135.1:n.905T>C
ENST00000700136.1:n.1620T>C
ENST00000700137.1:n.642T>C
ENST00000700138.1:n.419+984T>C
ENST00000700139.1:n.539T>C
ENST00000700155.1:c.108+984T>C	ENSP00000514827.1:n.108+984T>C
ENST00000700156.1:c.129T>C	ENSP00000514828.1:p.Asp43=
ENST00000700157.1:c.258T>C	ENSP00000514829.1:p.Asp86=
ENST00000700158.1:c.129T>C	ENSP00000514830.1:p.Asp43=
ENST00000700159.1:c.390+984T>C	ENSP00000514831.1:n.390+984T>C
ENST00000700160.1:c.129T>C	ENSP00000514832.1:p.Asp43=
ENST00000700163.1:c.114T>C	ENSP00000514835.1:p.Asp38=
ENST00000700164.1:n.207T>C
ENST00000700165.1:c.393+984T>C	ENSP00000514836.1:n.393+984T>C
ENST00000700166.1:n.410T>C
ENST00000700167.1:c.*64T>C	ENSP00000514837.1:n.*64T>C
ENST00000700168.1:n.210T>C
XM_011510144.1:c.441T>C	XP_011508446.1:p.Asp147=
XM_011510144.2:c.441T>C	XP_011508446.1:p.Asp147=
XM_011510145.1:c.438T>C	XP_011508447.1:p.Asp146=
XM_017002800.1:c.510T>C	XP_016858289.1:p.Asp170=
XM_017002801.1:c.507T>C	XP_016858290.1:p.Asp169=