Canonical Allele Identifier: CA1225857

Gene: CD247

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167431688G>C , CM000663.2:g.167431688G>C	GRCh38
NC_000001.10:g.167400925G>C , CM000663.1:g.167400925G>C	GRCh37
NC_000001.9:g.165667549G>C	NCBI36
NG_007384.1:g.91922C>G , LRG_36:g.91922C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198053.3:c.488C>G MANE Select	NP_932170.1:p.Pro163Arg
ENST00000362089.10:c.488C>G MANE Select	ENSP00000354782.5:p.Pro163Arg
NM_000734.3:c.485C>G	NP_000725.1:p.Pro162Arg
NM_000734.4:c.485C>G	NP_000725.1:p.Pro162Arg
NM_001378515.1:c.581C>G	NP_001365444.1:p.Pro194Arg
NM_001378516.1:c.578C>G	NP_001365445.1:p.Pro193Arg
NM_198053.2:c.488C>G , LRG_36t1:c.488C>G	NP_932170.1:p.Pro163Arg
ENST00000362089.9:c.488C>G	ENSP00000354782.5:p.Pro163Arg
ENST00000392122.3:c.485C>G	ENSP00000375969.3:p.Pro162Arg
ENST00000392122.4:c.485C>G	ENSP00000375969.3:p.Pro162Arg
ENST00000470379.1:n.563C>G
ENST00000470379.2:c.200C>G	ENSP00000514807.1:p.Pro67Arg
ENST00000476733.5:n.547C>G
ENST00000476733.6:c.203C>G	ENSP00000514806.1:p.Pro68Arg
ENST00000483825.5:n.1874C>G
ENST00000483825.6:n.1874C>G
ENST00000485089.5:n.142C>G
ENST00000485089.6:c.185C>G	ENSP00000514801.1:p.Pro62Arg
ENST00000700105.1:c.429+1336C>G	ENSP00000514800.1:n.429+1336C>G
ENST00000700106.1:c.512C>G	ENSP00000514802.1:p.Pro171Arg
ENST00000700107.1:c.509C>G	ENSP00000514803.1:p.Pro170Arg
ENST00000700108.1:c.200C>G	ENSP00000514804.1:p.Pro67Arg
ENST00000700109.1:c.203C>G	ENSP00000514805.1:p.Pro68Arg
ENST00000700110.1:n.427C>G
ENST00000700134.1:c.404C>G	ENSP00000514822.1:p.Pro135Arg
ENST00000700135.1:n.976C>G
ENST00000700136.1:n.1691C>G
ENST00000700137.1:n.713C>G
ENST00000700138.1:n.478C>G
ENST00000700155.1:c.167C>G	ENSP00000514827.1:p.Pro56Arg
ENST00000700156.1:c.200C>G	ENSP00000514828.1:p.Pro67Arg
ENST00000700157.1:c.329C>G	ENSP00000514829.1:p.Pro110Arg
ENST00000700158.1:c.200C>G	ENSP00000514830.1:p.Pro67Arg
ENST00000700159.1:c.449C>G	ENSP00000514831.1:p.Pro150Arg
ENST00000700160.1:c.200C>G	ENSP00000514832.1:p.Pro67Arg
ENST00000700163.1:c.185C>G	ENSP00000514835.1:p.Pro62Arg
ENST00000700164.1:n.278C>G
ENST00000700165.1:c.452C>G	ENSP00000514836.1:p.Pro151Arg
ENST00000700166.1:n.481C>G
ENST00000700167.1:c.*135C>G	ENSP00000514837.1:n.*135C>G
ENST00000700168.1:n.281C>G
XM_011510144.1:c.512C>G	XP_011508446.1:p.Pro171Arg
XM_011510144.2:c.512C>G	XP_011508446.1:p.Pro171Arg
XM_011510145.1:c.509C>G	XP_011508447.1:p.Pro170Arg
XM_017002800.1:c.581C>G	XP_016858289.1:p.Pro194Arg
XM_017002801.1:c.578C>G	XP_016858290.1:p.Pro193Arg