Canonical Allele Identifier: CA163044

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135595
• ClinVar RCV Id: RCV000122444
• dbSNP Id: rs483353028
• MyVariant Identifiers: chr12:g.54677661T>G (hg19) ; chr12:g.54283877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283877T>G , CM000674.2:g.54283877T>G	GRCh38
NC_000012.11:g.54677661T>G , CM000674.1:g.54677661T>G	GRCh37
NC_000012.10:g.52963928T>G	NCBI36
NG_033830.1:g.8174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.973T>G MANE Select	ENSP00000341826.7:p.Phe325Val
ENST00000550482.2:c.817T>G	ENSP00000446486.2:p.Phe273Val
ENST00000676472.1:c.105T>G
ENST00000676572.1:c.199T>G
ENST00000676707.1:c.120T>G
ENST00000676725.1:n.1147T>G
ENST00000676794.1:c.-9T>G	ENSP00000504819.1:n.-9T>G
ENST00000676853.1:c.201T>G
ENST00000676886.1:c.85-381T>G
ENST00000676951.1:c.222T>G
ENST00000677191.1:c.313T>G
ENST00000677210.1:c.973T>G	ENSP00000503610.1:p.Phe325Val
ENST00000677220.1:c.132+2375T>G	ENSP00000502987.1:n.132+2375T>G
ENST00000677224.1:c.75T>G
ENST00000677249.1:c.814T>G	ENSP00000503649.1:p.Phe272Val
ENST00000677279.1:c.72T>G
ENST00000677375.1:c.817T>G	ENSP00000503651.1:p.Phe273Val
ENST00000677385.1:c.*1159T>G	ENSP00000502985.1:n.*1159T>G
ENST00000677518.1:c.66T>G
ENST00000677539.1:c.355T>G
ENST00000677636.1:c.159T>G
ENST00000677778.1:c.75+1003T>G
ENST00000677840.1:c.66T>G
ENST00000677847.1:c.25-19T>G
ENST00000677945.1:c.144T>G
ENST00000678077.1:c.682T>G	ENSP00000504814.1:p.Phe228Val
ENST00000678212.1:c.161T>G
ENST00000678279.1:n.67-15T>G
ENST00000678365.1:n.49-2785T>G
ENST00000678412.1:c.157-381T>G
ENST00000678418.1:n.1169T>G
ENST00000678424.1:c.198T>G
ENST00000678448.1:c.165T>G	ENSP00000503619.1:p.Ile55Met
ENST00000678456.1:c.76-381T>G
ENST00000678513.1:c.93T>G
ENST00000678581.1:c.201T>G
ENST00000678597.1:c.90T>G
ENST00000678611.1:c.207T>G
ENST00000678873.1:c.141T>G
ENST00000678876.1:c.159T>G
ENST00000678934.1:c.120T>G
ENST00000678970.1:c.157-15T>G
ENST00000679026.1:c.66T>G
ENST00000679063.1:c.141T>G
ENST00000679079.1:c.156+643T>G
ENST00000679228.1:n.1168T>G
ENST00000679273.1:c.153T>G	ENSP00000504626.1:p.Ile51Met
ENST00000679344.1:c.174T>G
ENST00000330752.12:c.778T>G	ENSP00000333504.8:p.Phe260Val
ENST00000340913.10:c.973T>G	ENSP00000341826.6:p.Phe325Val
ENST00000546500.5:c.817T>G	ENSP00000448617.1:p.Phe273Val
ENST00000547276.5:c.658T>G	ENSP00000447260.1:p.Phe220Val
ENST00000547566.5:c.817T>G	ENSP00000449913.1:p.Phe273Val
ENST00000547708.5:c.469T>G
ENST00000550482.1:c.430T>G	ENSP00000446486.1:p.Phe144Val
ENST00000551679.1:n.155T>G
NM_002136.2:c.817T>G	NP_002127.1:p.Phe273Val
NM_031157.2:c.973T>G	NP_112420.1:p.Phe325Val
XM_005268826.1:c.973T>G	XP_005268883.1:p.Phe325Val
XR_245923.1:n.1085T>G
XR_245924.1:n.929T>G
NM_002136.3:c.817T>G	NP_002127.1:p.Phe273Val
NM_031157.3:c.973T>G	NP_112420.1:p.Phe325Val
NR_135167.1:n.935T>G
XM_005268826.2:c.973T>G	XP_005268883.1:p.Phe325Val
XR_245923.2:n.1045T>G
NM_002136.4:c.817T>G	NP_002127.1:p.Phe273Val
NM_031157.4:c.973T>G MANE Select	NP_112420.1:p.Phe325Val
NR_135167.2:n.899T>G