Canonical Allele Identifier: CA163047

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135596
• ClinVar RCV Id: RCV000122445
• dbSNP Id: rs483353029
• MyVariant Identifiers: chr12:g.54677667C>T (hg19) ; chr12:g.54283883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283883C>T , CM000674.2:g.54283883C>T	GRCh38
NC_000012.11:g.54677667C>T , CM000674.1:g.54677667C>T	GRCh37
NC_000012.10:g.52963934C>T	NCBI36
NG_033830.1:g.8180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.979C>T MANE Select	ENSP00000341826.7:p.Pro327Ser
ENST00000550482.2:c.823C>T	ENSP00000446486.2:p.Pro275Ser
ENST00000676472.1:c.111C>T
ENST00000676572.1:c.205C>T
ENST00000676707.1:c.126C>T
ENST00000676725.1:n.1153C>T
ENST00000676794.1:c.-3C>T	ENSP00000504819.1:n.-3C>T
ENST00000676853.1:c.207C>T
ENST00000676886.1:c.85-375C>T
ENST00000676951.1:c.228C>T
ENST00000677191.1:c.319C>T
ENST00000677210.1:c.979C>T	ENSP00000503610.1:p.Pro327Ser
ENST00000677220.1:c.132+2381C>T	ENSP00000502987.1:n.132+2381C>T
ENST00000677224.1:c.81C>T
ENST00000677249.1:c.820C>T	ENSP00000503649.1:p.Pro274Ser
ENST00000677279.1:c.78C>T
ENST00000677375.1:c.823C>T	ENSP00000503651.1:p.Pro275Ser
ENST00000677385.1:c.*1165C>T	ENSP00000502985.1:n.*1165C>T
ENST00000677518.1:c.72C>T
ENST00000677539.1:c.361C>T
ENST00000677636.1:c.165C>T
ENST00000677778.1:c.75+1009C>T
ENST00000677840.1:c.72C>T
ENST00000677847.1:c.25-13C>T
ENST00000677945.1:c.150C>T
ENST00000678077.1:c.688C>T	ENSP00000504814.1:p.Pro230Ser
ENST00000678212.1:c.167C>T
ENST00000678279.1:n.67-9C>T
ENST00000678365.1:n.49-2779C>T
ENST00000678412.1:c.157-375C>T
ENST00000678418.1:n.1175C>T
ENST00000678424.1:c.204C>T
ENST00000678448.1:c.171C>T	ENSP00000503619.1:p.Asp57=
ENST00000678456.1:c.76-375C>T
ENST00000678513.1:c.99C>T
ENST00000678581.1:c.207C>T
ENST00000678597.1:c.96C>T
ENST00000678611.1:c.213C>T
ENST00000678873.1:c.147C>T
ENST00000678876.1:c.165C>T
ENST00000678934.1:c.126C>T
ENST00000678970.1:c.157-9C>T
ENST00000679026.1:c.72C>T
ENST00000679063.1:c.147C>T
ENST00000679079.1:c.156+649C>T
ENST00000679228.1:n.1174C>T
ENST00000679273.1:c.159C>T	ENSP00000504626.1:p.Asp53=
ENST00000679344.1:c.180C>T
ENST00000330752.12:c.784C>T	ENSP00000333504.8:p.Pro262Ser
ENST00000340913.10:c.979C>T	ENSP00000341826.6:p.Pro327Ser
ENST00000546500.5:c.823C>T	ENSP00000448617.1:p.Pro275Ser
ENST00000547276.5:c.664C>T	ENSP00000447260.1:p.Pro222Ser
ENST00000547566.5:c.823C>T	ENSP00000449913.1:p.Pro275Ser
ENST00000550482.1:c.436C>T	ENSP00000446486.1:p.Pro146Ser
ENST00000551679.1:n.161C>T
NM_002136.2:c.823C>T	NP_002127.1:p.Pro275Ser
NM_031157.2:c.979C>T	NP_112420.1:p.Pro327Ser
XM_005268826.1:c.979C>T	XP_005268883.1:p.Pro327Ser
XR_245923.1:n.1091C>T
XR_245924.1:n.935C>T
NM_002136.3:c.823C>T	NP_002127.1:p.Pro275Ser
NM_031157.3:c.979C>T	NP_112420.1:p.Pro327Ser
NR_135167.1:n.941C>T
XM_005268826.2:c.979C>T	XP_005268883.1:p.Pro327Ser
XR_245923.2:n.1051C>T
NM_002136.4:c.823C>T	NP_002127.1:p.Pro275Ser
NM_031157.4:c.979C>T MANE Select	NP_112420.1:p.Pro327Ser
NR_135167.2:n.905C>T