Canonical Allele Identifier: CA362137491

Gene: NPM1

Linked Data

• gnomAD v4: 5-171410544-G-A
• COSMIC: COSM49062
• MyVariant Identifiers: chr5:g.170837548G>A (hg19) ; chr5:g.171410544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171410544G>A , CM000667.2:g.171410544G>A	GRCh38
NC_000005.9:g.170837548G>A , CM000667.1:g.170837548G>A	GRCh37
NC_000005.8:g.170770153G>A	NCBI36
NG_016018.1:g.27841G>A , LRG_458:g.27841G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296930.10:c.864G>A MANE Select	ENSP00000296930.5:p.Trp288Ter
ENST00000518587.2:n.1058G>A
ENST00000521260.2:n.1242G>A
ENST00000521672.6:c.672G>A	ENSP00000429485.2:p.Trp224Ter
ENST00000676504.1:n.1610G>A
ENST00000676589.1:c.951G>A	ENSP00000503283.1:p.Trp317Ter
ENST00000676613.1:c.*1611G>A	ENSP00000503767.1:n.*1611G>A
ENST00000676625.1:n.3281G>A
ENST00000677297.1:c.351G>A	ENSP00000504016.1:p.Trp117Ter
ENST00000677325.1:c.672G>A	ENSP00000503781.1:p.Trp224Ter
ENST00000677357.1:c.897G>A	ENSP00000504740.1:p.Trp299Ter
ENST00000677467.1:n.2289G>A
ENST00000677600.1:n.2182G>A
ENST00000677672.1:n.2287G>A
ENST00000677682.1:n.2194G>A
ENST00000677741.1:n.2130G>A
ENST00000677904.1:n.1140G>A
ENST00000677907.1:c.585G>A	ENSP00000504308.1:p.Trp195Ter
ENST00000678186.1:n.2334G>A
ENST00000678267.1:c.*1965G>A	ENSP00000504107.1:n.*1965G>A
ENST00000678280.1:c.*849G>A	ENSP00000503235.1:n.*849G>A
ENST00000678774.1:c.*340G>A	ENSP00000503150.1:n.*340G>A
ENST00000679190.1:c.*47G>A	ENSP00000503408.1:n.*47G>A
ENST00000296930.9:c.864G>A	ENSP00000296930.5:p.Trp288Ter
ENST00000351986.10:c.777G>A	ENSP00000341168.6:p.Trp259Ter
ENST00000517671.5:c.864G>A	ENSP00000428755.1:p.Trp288Ter
ENST00000524204.1:n.300G>A
NM_002520.6:c.864G>A , LRG_458t1:c.864G>A	NP_002511.1:p.Trp288Ter
NM_199185.3:c.777G>A	NP_954654.1:p.Trp259Ter
XM_011534564.1:c.672G>A	XP_011532866.1:p.Trp224Ter
NM_001355006.1:c.864G>A	NP_001341935.1:p.Trp288Ter
NM_001355007.1:c.672G>A	NP_001341936.1:p.Trp224Ter
NM_001355010.1:c.483G>A	NP_001341939.1:p.Trp161Ter
NR_149149.1:n.981G>A
NM_001355006.2:c.864G>A	NP_001341935.1:p.Trp288Ter
NM_001355007.2:c.672G>A	NP_001341936.1:p.Trp224Ter
NM_001355010.2:c.483G>A	NP_001341939.1:p.Trp161Ter
NM_002520.7:c.864G>A MANE Select	NP_002511.1:p.Trp288Ter
NM_199185.4:c.777G>A	NP_954654.1:p.Trp259Ter
NR_149149.2:n.836G>A