Canonical Allele Identifier: CA163074

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135605
• ClinVar RCV Id: RCV000122454
• dbSNP Id: rs483353036
• MyVariant Identifiers: chr12:g.54677740C>T (hg19) ; chr12:g.54283956C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283956C>T , CM000674.2:g.54283956C>T	GRCh38
NC_000012.11:g.54677740C>T , CM000674.1:g.54677740C>T	GRCh37
NC_000012.10:g.52964007C>T	NCBI36
NG_033830.1:g.8253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.1052C>T MANE Select	ENSP00000341826.7:p.Pro351Leu
ENST00000550482.2:c.896C>T	ENSP00000446486.2:p.Pro299Leu
ENST00000676472.1:c.184C>T
ENST00000676572.1:c.278C>T
ENST00000676707.1:c.199C>T
ENST00000676725.1:n.1226C>T
ENST00000676794.1:c.71C>T	ENSP00000504819.1:p.Pro24Leu
ENST00000676853.1:c.280C>T
ENST00000676886.1:c.85-302C>T
ENST00000676951.1:c.301C>T
ENST00000677191.1:c.392C>T
ENST00000677210.1:c.1052C>T	ENSP00000503610.1:p.Pro351Leu
ENST00000677220.1:c.132+2454C>T	ENSP00000502987.1:n.132+2454C>T
ENST00000677224.1:c.154C>T
ENST00000677249.1:c.893C>T	ENSP00000503649.1:p.Pro298Leu
ENST00000677279.1:c.151C>T
ENST00000677375.1:c.896C>T	ENSP00000503651.1:p.Pro299Leu
ENST00000677385.1:c.*1238C>T	ENSP00000502985.1:n.*1238C>T
ENST00000677518.1:c.115C>T
ENST00000677539.1:c.434C>T
ENST00000677636.1:c.238C>T
ENST00000677778.1:c.75+1082C>T
ENST00000677840.1:c.145C>T
ENST00000677847.1:c.85C>T
ENST00000677945.1:c.223C>T
ENST00000678077.1:c.761C>T	ENSP00000504814.1:p.Pro254Leu
ENST00000678212.1:c.240C>T
ENST00000678279.1:n.131C>T
ENST00000678365.1:n.49-2706C>T
ENST00000678412.1:c.157-302C>T
ENST00000678418.1:n.1248C>T
ENST00000678424.1:c.277C>T
ENST00000678448.1:c.244C>T	ENSP00000503619.1:n.244C>T
ENST00000678456.1:c.76-302C>T
ENST00000678513.1:c.172C>T
ENST00000678581.1:c.280C>T
ENST00000678597.1:c.169C>T
ENST00000678611.1:c.286C>T
ENST00000678873.1:c.220C>T
ENST00000678876.1:c.238C>T
ENST00000678934.1:c.199C>T
ENST00000678970.1:c.221C>T
ENST00000679026.1:c.145C>T
ENST00000679063.1:c.220C>T
ENST00000679079.1:c.157-593C>T
ENST00000679228.1:n.1247C>T
ENST00000679273.1:c.232C>T	ENSP00000504626.1:n.232C>T
ENST00000679344.1:c.253C>T
ENST00000330752.12:c.857C>T	ENSP00000333504.8:p.Pro286Leu
ENST00000340913.10:c.1052C>T	ENSP00000341826.6:p.Pro351Leu
ENST00000546500.5:c.896C>T	ENSP00000448617.1:p.Pro299Leu
ENST00000547276.5:c.737C>T	ENSP00000447260.1:p.Pro246Leu
ENST00000547566.5:c.896C>T	ENSP00000449913.1:p.Pro299Leu
ENST00000550482.1:c.509C>T	ENSP00000446486.1:p.Pro170Leu
ENST00000551679.1:n.234C>T
NM_002136.2:c.896C>T	NP_002127.1:p.Pro299Leu
NM_031157.2:c.1052C>T	NP_112420.1:p.Pro351Leu
XM_005268826.1:c.1052C>T	XP_005268883.1:p.Pro351Leu
XR_245923.1:n.1164C>T
XR_245924.1:n.1008C>T
NM_002136.3:c.896C>T	NP_002127.1:p.Pro299Leu
NM_031157.3:c.1052C>T	NP_112420.1:p.Pro351Leu
NR_135167.1:n.1014C>T
XM_005268826.2:c.1052C>T	XP_005268883.1:p.Pro351Leu
XR_245923.2:n.1124C>T
NM_002136.4:c.896C>T	NP_002127.1:p.Pro299Leu
NM_031157.4:c.1052C>T MANE Select	NP_112420.1:p.Pro351Leu
NR_135167.2:n.978C>T