Canonical Allele Identifier: CA144797

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 65451
• ClinVar RCV Id: RCV000055649 ; RCV001781388
• dbSNP Id: rs397518452
• MyVariant Identifiers: chr12:g.54677629A>T (hg19) ; chr12:g.54283845A>T (hg38)
• PubMed: PMID:20116073 ; PMID:23455423 ; PMID:25616961

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283845A>T , CM000674.2:g.54283845A>T	GRCh38
NC_000012.11:g.54677629A>T , CM000674.1:g.54677629A>T	GRCh37
NC_000012.10:g.52963896A>T	NCBI36
NG_033830.1:g.8142A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.941A>T MANE Select	ENSP00000341826.7:p.Asp314Val
ENST00000550482.2:c.785A>T	ENSP00000446486.2:p.Asp262Val
ENST00000676472.1:c.73A>T
ENST00000676572.1:c.167A>T
ENST00000676707.1:c.88A>T
ENST00000676725.1:n.1115A>T
ENST00000676794.1:c.-41A>T	ENSP00000504819.1:n.-41A>T
ENST00000676853.1:c.169A>T
ENST00000676886.1:c.85-413A>T
ENST00000676951.1:c.190A>T
ENST00000677191.1:c.281A>T
ENST00000677210.1:c.941A>T	ENSP00000503610.1:p.Asp314Val
ENST00000677220.1:c.132+2343A>T	ENSP00000502987.1:n.132+2343A>T
ENST00000677224.1:c.43A>T
ENST00000677249.1:c.782A>T	ENSP00000503649.1:p.Asp261Val
ENST00000677279.1:c.40A>T
ENST00000677375.1:c.785A>T	ENSP00000503651.1:p.Asp262Val
ENST00000677385.1:c.*1127A>T	ENSP00000502985.1:n.*1127A>T
ENST00000677518.1:c.34A>T
ENST00000677539.1:c.323A>T
ENST00000677636.1:c.127A>T
ENST00000677778.1:c.75+971A>T
ENST00000677840.1:c.34A>T
ENST00000677847.1:c.24+10A>T
ENST00000677945.1:c.112A>T
ENST00000678077.1:c.650A>T	ENSP00000504814.1:p.Asp217Val
ENST00000678212.1:c.129A>T
ENST00000678279.1:n.67-47A>T
ENST00000678365.1:n.49-2817A>T
ENST00000678412.1:c.157-413A>T
ENST00000678418.1:n.1137A>T
ENST00000678424.1:c.166A>T
ENST00000678448.1:c.133A>T	ENSP00000503619.1:p.Ile45Phe
ENST00000678456.1:c.76-413A>T
ENST00000678513.1:c.61A>T
ENST00000678581.1:c.169A>T
ENST00000678597.1:c.58A>T
ENST00000678611.1:c.175A>T
ENST00000678873.1:c.109A>T
ENST00000678876.1:c.127A>T
ENST00000678934.1:c.88A>T
ENST00000678970.1:c.157-47A>T
ENST00000679026.1:c.34A>T
ENST00000679063.1:c.109A>T
ENST00000679079.1:c.156+611A>T
ENST00000679228.1:n.1136A>T
ENST00000679273.1:c.121A>T	ENSP00000504626.1:p.Ile41Phe
ENST00000679344.1:c.142A>T
ENST00000330752.12:c.746A>T	ENSP00000333504.8:p.Asp249Val
ENST00000340913.10:c.941A>T	ENSP00000341826.6:p.Asp314Val
ENST00000546500.5:c.785A>T	ENSP00000448617.1:p.Asp262Val
ENST00000547276.5:c.626A>T	ENSP00000447260.1:p.Asp209Val
ENST00000547566.5:c.785A>T	ENSP00000449913.1:p.Asp262Val
ENST00000547708.5:c.437A>T	ENSP00000448229.1:p.Asp146Val
ENST00000550482.1:c.398A>T	ENSP00000446486.1:p.Asp133Val
ENST00000551679.1:n.123A>T
NM_002136.2:c.785A>T	NP_002127.1:p.Asp262Val
NM_031157.2:c.941A>T	NP_112420.1:p.Asp314Val
XM_005268826.1:c.941A>T	XP_005268883.1:p.Asp314Val
XR_245923.1:n.1053A>T
XR_245924.1:n.897A>T
NM_002136.3:c.785A>T	NP_002127.1:p.Asp262Val
NM_031157.3:c.941A>T	NP_112420.1:p.Asp314Val
NR_135167.1:n.903A>T
XM_005268826.2:c.941A>T	XP_005268883.1:p.Asp314Val
XR_245923.2:n.1013A>T
NM_002136.4:c.785A>T	NP_002127.1:p.Asp262Val
NM_031157.4:c.941A>T MANE Select	NP_112420.1:p.Asp314Val
NR_135167.2:n.867A>T