Canonical Allele Identifier: CA1225867

Gene: CD247

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167431732G>A , CM000663.2:g.167431732G>A	GRCh38
NC_000001.10:g.167400969G>A , CM000663.1:g.167400969G>A	GRCh37
NC_000001.9:g.165667593G>A	NCBI36
NG_007384.1:g.91878C>T , LRG_36:g.91878C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198053.3:c.444C>T MANE Select	NP_932170.1:p.Ala148=
ENST00000362089.10:c.444C>T MANE Select	ENSP00000354782.5:p.Ala148=
NM_000734.3:c.441C>T	NP_000725.1:p.Ala147=
NM_000734.4:c.441C>T	NP_000725.1:p.Ala147=
NM_001378515.1:c.537C>T	NP_001365444.1:p.Ala179=
NM_001378516.1:c.534C>T	NP_001365445.1:p.Ala178=
NM_198053.2:c.444C>T , LRG_36t1:c.444C>T	NP_932170.1:p.Ala148=
ENST00000362089.9:c.444C>T	ENSP00000354782.5:p.Ala148=
ENST00000392122.3:c.441C>T	ENSP00000375969.3:p.Ala147=
ENST00000392122.4:c.441C>T	ENSP00000375969.3:p.Ala147=
ENST00000470379.1:n.519C>T
ENST00000470379.2:c.156C>T	ENSP00000514807.1:p.Ala52=
ENST00000476733.5:n.503C>T
ENST00000476733.6:c.159C>T	ENSP00000514806.1:p.Ala53=
ENST00000483825.5:n.1830C>T
ENST00000483825.6:n.1830C>T
ENST00000485089.5:n.98C>T
ENST00000485089.6:c.141C>T	ENSP00000514801.1:p.Ala47=
ENST00000700105.1:c.429+1292C>T	ENSP00000514800.1:n.429+1292C>T
ENST00000700106.1:c.468C>T	ENSP00000514802.1:p.Ala156=
ENST00000700107.1:c.465C>T	ENSP00000514803.1:p.Ala155=
ENST00000700108.1:c.156C>T	ENSP00000514804.1:p.Ala52=
ENST00000700109.1:c.159C>T	ENSP00000514805.1:p.Ala53=
ENST00000700110.1:n.383C>T
ENST00000700134.1:c.360C>T	ENSP00000514822.1:p.Ala120=
ENST00000700135.1:n.932C>T
ENST00000700136.1:n.1647C>T
ENST00000700137.1:n.669C>T
ENST00000700138.1:n.434C>T
ENST00000700155.1:c.123C>T	ENSP00000514827.1:p.Ala41=
ENST00000700156.1:c.156C>T	ENSP00000514828.1:p.Ala52=
ENST00000700157.1:c.285C>T	ENSP00000514829.1:p.Ala95=
ENST00000700158.1:c.156C>T	ENSP00000514830.1:p.Ala52=
ENST00000700159.1:c.405C>T	ENSP00000514831.1:p.Ala135=
ENST00000700160.1:c.156C>T	ENSP00000514832.1:p.Ala52=
ENST00000700163.1:c.141C>T	ENSP00000514835.1:p.Ala47=
ENST00000700164.1:n.234C>T
ENST00000700165.1:c.408C>T	ENSP00000514836.1:p.Ala136=
ENST00000700166.1:n.437C>T
ENST00000700167.1:c.*91C>T	ENSP00000514837.1:n.*91C>T
ENST00000700168.1:n.237C>T
XM_011510144.1:c.468C>T	XP_011508446.1:p.Ala156=
XM_011510144.2:c.468C>T	XP_011508446.1:p.Ala156=
XM_011510145.1:c.465C>T	XP_011508447.1:p.Ala155=
XM_017002800.1:c.537C>T	XP_016858289.1:p.Ala179=
XM_017002801.1:c.534C>T	XP_016858290.1:p.Ala178=