Canonical Allele Identifier: CA362133941

Gene: NPM1

Linked Data

• ClinVar Variation Id: 694586
• ClinVar RCV Id: RCV000856606
• dbSNP Id: rs267600552
• MyVariant Identifiers: chr5:g.170827164G>C (hg19) ; chr5:g.171400160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171400160G>C , CM000667.2:g.171400160G>C	GRCh38
NC_000005.9:g.170827164G>C , CM000667.1:g.170827164G>C	GRCh37
NC_000005.8:g.170759769G>C	NCBI36
NG_016018.1:g.17457G>C , LRG_458:g.17457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296930.10:c.532G>C MANE Select	ENSP00000296930.5:p.Asp178His
ENST00000518587.2:n.726G>C
ENST00000521260.2:n.910G>C
ENST00000521672.6:c.340G>C	ENSP00000429485.2:p.Asp114His
ENST00000676504.1:n.650G>C
ENST00000676589.1:c.532G>C	ENSP00000503283.1:p.Asp178His
ENST00000676613.1:c.*63G>C	ENSP00000503767.1:n.*63G>C
ENST00000676625.1:n.653G>C
ENST00000677297.1:c.259-7540G>C	ENSP00000504016.1:n.259-7540G>C
ENST00000677325.1:c.340G>C	ENSP00000503781.1:p.Asp114His
ENST00000677357.1:c.532G>C	ENSP00000504740.1:p.Asp178His
ENST00000677467.1:n.654G>C
ENST00000677600.1:n.547G>C
ENST00000677672.1:n.652G>C
ENST00000677741.1:n.1798G>C
ENST00000677904.1:n.808G>C
ENST00000677907.1:c.340G>C	ENSP00000504308.1:p.Asp114His
ENST00000678186.1:n.786G>C
ENST00000678267.1:c.*417G>C	ENSP00000504107.1:n.*417G>C
ENST00000678280.1:c.532G>C	ENSP00000503235.1:p.Asp178His
ENST00000678774.1:c.*8G>C	ENSP00000503150.1:n.*8G>C
ENST00000679006.1:n.653G>C
ENST00000679190.1:c.247-7559G>C	ENSP00000503408.1:n.247-7559G>C
ENST00000679233.1:c.525-5142G>C	ENSP00000503717.1:n.525-5142G>C
ENST00000296930.9:c.532G>C	ENSP00000296930.5:p.Asp178His
ENST00000351986.10:c.532G>C	ENSP00000341168.6:p.Asp178His
ENST00000393820.2:c.532G>C	ENSP00000377408.2:p.Asp178His
ENST00000517671.5:c.532G>C	ENSP00000428755.1:p.Asp178His
NM_001037738.2:c.532G>C	NP_001032827.1:p.Asp178His
NM_002520.6:c.532G>C , LRG_458t1:c.532G>C	NP_002511.1:p.Asp178His
NM_199185.3:c.532G>C	NP_954654.1:p.Asp178His
XM_005265920.2:c.532G>C	XP_005265977.1:p.Asp178His
XM_011534564.1:c.340G>C	XP_011532866.1:p.Asp114His
NM_001355006.1:c.532G>C	NP_001341935.1:p.Asp178His
NM_001355007.1:c.340G>C	NP_001341936.1:p.Asp114His
NM_001355009.1:c.532G>C	NP_001341938.1:p.Asp178His
NM_001355010.1:c.238G>C	NP_001341939.1:p.Asp80His
NR_149149.1:n.649G>C
NM_001037738.3:c.532G>C	NP_001032827.1:p.Asp178His
NM_001355009.2:c.532G>C	NP_001341938.1:p.Asp178His
NM_001355006.2:c.532G>C	NP_001341935.1:p.Asp178His
NM_001355007.2:c.340G>C	NP_001341936.1:p.Asp114His
NM_001355010.2:c.238G>C	NP_001341939.1:p.Asp80His
NM_002520.7:c.532G>C MANE Select	NP_002511.1:p.Asp178His
NM_199185.4:c.532G>C	NP_954654.1:p.Asp178His
NR_149149.2:n.504G>C