Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165315486G>A , CM000664.2:g.165315486G>A	GRCh38
NC_000002.11:g.166171996G>A , CM000664.1:g.166171996G>A	GRCh37
NC_000002.10:g.165880242G>A	NCBI36
NG_008143.1:g.81085G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001040142.2:c.1399G>A MANE Select	NP_001035232.1:p.Ala467Thr
ENST00000375437.7:c.1399G>A MANE Select	ENSP00000364586.2:p.Ala467Thr
NM_001371246.1:c.1399G>A MANE Plus Clinical	NP_001358175.1:p.Ala467Thr
ENST00000631182.3:c.1399G>A MANE Plus Clinical	ENSP00000486885.1:p.Ala467Thr
NM_001040142.1:c.1399G>A	NP_001035232.1:p.Ala467Thr
NM_001040143.1:c.1399G>A	NP_001035233.1:p.Ala467Thr
NM_001040143.2:c.1399G>A	NP_001035233.1:p.Ala467Thr
NM_001371247.1:c.1399G>A	NP_001358176.1:p.Ala467Thr
NM_021007.2:c.1399G>A	NP_066287.2:p.Ala467Thr
NM_021007.3:c.1399G>A	NP_066287.2:p.Ala467Thr
ENST00000283256.10:c.1399G>A	ENSP00000283256.6:p.Ala467Thr
ENST00000375427.4:c.1399G>A	ENSP00000364576.2:p.Ala467Thr
ENST00000375437.6:c.1399G>A	ENSP00000364586.2:p.Ala467Thr
ENST00000424833.5:c.1399G>A	ENSP00000406454.2:p.Ala467Thr
ENST00000480032.4:n.1542G>A
ENST00000631182.2:c.1399G>A	ENSP00000486885.1:p.Ala467Thr
ENST00000635945.1:n.1762G>A
ENST00000636071.2:c.1399G>A	ENSP00000490107.1:p.Ala467Thr
ENST00000636135.1:c.1270G>A	ENSP00000489821.1:p.Ala424Thr
ENST00000636384.2:c.1399G>A	ENSP00000490765.1:p.Ala467Thr
ENST00000636662.2:c.*1922G>A	ENSP00000489873.1:n.*1922G>A
ENST00000636769.1:c.1399G>A	ENSP00000490800.1:p.Ala467Thr
ENST00000636985.2:c.1003G>A	ENSP00000490849.1:p.Ala335Thr
ENST00000637266.2:c.1399G>A	ENSP00000490866.1:p.Ala467Thr
ENST00000637367.1:c.*1332G>A	ENSP00000490592.1:n.*1332G>A
ENST00000638151.1:n.1483G>A
XM_005246750.2:c.1399G>A	XP_005246807.1:p.Ala467Thr
XM_005246753.2:c.1399G>A	XP_005246810.1:p.Ala467Thr
XM_005246753.3:c.1399G>A	XP_005246810.1:p.Ala467Thr
XM_005246754.3:c.1369G>A	XP_005246811.1:p.Ala457Thr
XM_005246755.3:c.646G>A	XP_005246812.1:p.Ala216Thr
XM_011511608.1:c.1399G>A	XP_011509910.1:p.Ala467Thr
XM_011511609.1:c.1399G>A	XP_011509911.1:p.Ala467Thr
XM_017004656.1:c.1399G>A	XP_016860145.1:p.Ala467Thr
XM_017004657.1:c.1399G>A	XP_016860146.1:p.Ala467Thr
XM_017004658.1:c.646G>A	XP_016860147.1:p.Ala216Thr
XM_024453037.1:c.646G>A	XP_024308805.1:p.Ala216Thr