Canonical Allele Identifier: CA163071

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135604
• ClinVar RCV Id: RCV000122453
• dbSNP Id: rs483353035
• MyVariant Identifiers: chr12:g.54677730T>C (hg19) ; chr12:g.54283946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283946T>C , CM000674.2:g.54283946T>C	GRCh38
NC_000012.11:g.54677730T>C , CM000674.1:g.54677730T>C	GRCh37
NC_000012.10:g.52963997T>C	NCBI36
NG_033830.1:g.8243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.1042T>C MANE Select	ENSP00000341826.7:p.Phe348Leu
ENST00000550482.2:c.886T>C	ENSP00000446486.2:p.Phe296Leu
ENST00000676472.1:c.174T>C
ENST00000676572.1:c.268T>C
ENST00000676707.1:c.189T>C
ENST00000676725.1:n.1216T>C
ENST00000676794.1:c.61T>C	ENSP00000504819.1:p.Phe21Leu
ENST00000676853.1:c.270T>C
ENST00000676886.1:c.85-312T>C
ENST00000676951.1:c.291T>C
ENST00000677191.1:c.382T>C
ENST00000677210.1:c.1042T>C	ENSP00000503610.1:p.Phe348Leu
ENST00000677220.1:c.132+2444T>C	ENSP00000502987.1:n.132+2444T>C
ENST00000677224.1:c.144T>C
ENST00000677249.1:c.883T>C	ENSP00000503649.1:p.Phe295Leu
ENST00000677279.1:c.141T>C
ENST00000677375.1:c.886T>C	ENSP00000503651.1:p.Phe296Leu
ENST00000677385.1:c.*1228T>C	ENSP00000502985.1:n.*1228T>C
ENST00000677518.1:c.105T>C
ENST00000677539.1:c.424T>C
ENST00000677636.1:c.228T>C
ENST00000677778.1:c.75+1072T>C
ENST00000677840.1:c.135T>C
ENST00000677847.1:c.75T>C
ENST00000677945.1:c.213T>C
ENST00000678077.1:c.751T>C	ENSP00000504814.1:p.Phe251Leu
ENST00000678212.1:c.230T>C
ENST00000678279.1:n.121T>C
ENST00000678365.1:n.49-2716T>C
ENST00000678412.1:c.157-312T>C
ENST00000678418.1:n.1238T>C
ENST00000678424.1:c.267T>C
ENST00000678448.1:c.234T>C	ENSP00000503619.1:n.234T>C
ENST00000678456.1:c.76-312T>C
ENST00000678513.1:c.162T>C
ENST00000678581.1:c.270T>C
ENST00000678597.1:c.159T>C
ENST00000678611.1:c.276T>C
ENST00000678873.1:c.210T>C
ENST00000678876.1:c.228T>C
ENST00000678934.1:c.189T>C
ENST00000678970.1:c.211T>C
ENST00000679026.1:c.135T>C
ENST00000679063.1:c.210T>C
ENST00000679079.1:c.157-603T>C
ENST00000679228.1:n.1237T>C
ENST00000679273.1:c.222T>C	ENSP00000504626.1:n.222T>C
ENST00000679344.1:c.243T>C
ENST00000330752.12:c.847T>C	ENSP00000333504.8:p.Phe283Leu
ENST00000340913.10:c.1042T>C	ENSP00000341826.6:p.Phe348Leu
ENST00000546500.5:c.886T>C	ENSP00000448617.1:p.Phe296Leu
ENST00000547276.5:c.727T>C	ENSP00000447260.1:p.Phe243Leu
ENST00000547566.5:c.886T>C	ENSP00000449913.1:p.Phe296Leu
ENST00000550482.1:c.499T>C	ENSP00000446486.1:p.Phe167Leu
ENST00000551679.1:n.224T>C
NM_002136.2:c.886T>C	NP_002127.1:p.Phe296Leu
NM_031157.2:c.1042T>C	NP_112420.1:p.Phe348Leu
XM_005268826.1:c.1042T>C	XP_005268883.1:p.Phe348Leu
XR_245923.1:n.1154T>C
XR_245924.1:n.998T>C
NM_002136.3:c.886T>C	NP_002127.1:p.Phe296Leu
NM_031157.3:c.1042T>C	NP_112420.1:p.Phe348Leu
NR_135167.1:n.1004T>C
XM_005268826.2:c.1042T>C	XP_005268883.1:p.Phe348Leu
XR_245923.2:n.1114T>C
NM_002136.4:c.886T>C	NP_002127.1:p.Phe296Leu
NM_031157.4:c.1042T>C MANE Select	NP_112420.1:p.Phe348Leu
NR_135167.2:n.968T>C