Canonical Allele Identifier: CA362137488

Gene: NPM1

Linked Data

• gnomAD v3: 5-171410543-G-T
• gnomAD v4: 5-171410543-G-T
• MyVariant Identifiers: chr5:g.170837547G>T (hg19) ; chr5:g.171410543G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171410543G>T , CM000667.2:g.171410543G>T	GRCh38
NC_000005.9:g.170837547G>T , CM000667.1:g.170837547G>T	GRCh37
NC_000005.8:g.170770152G>T	NCBI36
NG_016018.1:g.27840G>T , LRG_458:g.27840G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296930.10:c.863G>T MANE Select	ENSP00000296930.5:p.Trp288Leu
ENST00000518587.2:n.1057G>T
ENST00000521260.2:n.1241G>T
ENST00000521672.6:c.671G>T	ENSP00000429485.2:p.Trp224Leu
ENST00000676504.1:n.1609G>T
ENST00000676589.1:c.950G>T	ENSP00000503283.1:p.Trp317Leu
ENST00000676613.1:c.*1610G>T	ENSP00000503767.1:n.*1610G>T
ENST00000676625.1:n.3280G>T
ENST00000677297.1:c.350G>T	ENSP00000504016.1:p.Trp117Leu
ENST00000677325.1:c.671G>T	ENSP00000503781.1:p.Trp224Leu
ENST00000677357.1:c.896G>T	ENSP00000504740.1:p.Trp299Leu
ENST00000677467.1:n.2288G>T
ENST00000677600.1:n.2181G>T
ENST00000677672.1:n.2286G>T
ENST00000677682.1:n.2193G>T
ENST00000677741.1:n.2129G>T
ENST00000677904.1:n.1139G>T
ENST00000677907.1:c.584G>T	ENSP00000504308.1:p.Trp195Leu
ENST00000678186.1:n.2333G>T
ENST00000678267.1:c.*1964G>T	ENSP00000504107.1:n.*1964G>T
ENST00000678280.1:c.*848G>T	ENSP00000503235.1:n.*848G>T
ENST00000678774.1:c.*339G>T	ENSP00000503150.1:n.*339G>T
ENST00000679190.1:c.*46G>T	ENSP00000503408.1:n.*46G>T
ENST00000296930.9:c.863G>T	ENSP00000296930.5:p.Trp288Leu
ENST00000351986.10:c.776G>T	ENSP00000341168.6:p.Trp259Leu
ENST00000517671.5:c.863G>T	ENSP00000428755.1:p.Trp288Leu
ENST00000524204.1:n.299G>T
NM_002520.6:c.863G>T , LRG_458t1:c.863G>T	NP_002511.1:p.Trp288Leu
NM_199185.3:c.776G>T	NP_954654.1:p.Trp259Leu
XM_011534564.1:c.671G>T	XP_011532866.1:p.Trp224Leu
NM_001355006.1:c.863G>T	NP_001341935.1:p.Trp288Leu
NM_001355007.1:c.671G>T	NP_001341936.1:p.Trp224Leu
NM_001355010.1:c.482G>T	NP_001341939.1:p.Trp161Leu
NR_149149.1:n.980G>T
NM_001355006.2:c.863G>T	NP_001341935.1:p.Trp288Leu
NM_001355007.2:c.671G>T	NP_001341936.1:p.Trp224Leu
NM_001355010.2:c.482G>T	NP_001341939.1:p.Trp161Leu
NM_002520.7:c.863G>T MANE Select	NP_002511.1:p.Trp288Leu
NM_199185.4:c.776G>T	NP_954654.1:p.Trp259Leu
NR_149149.2:n.835G>T