Canonical Allele Identifier: CA163059

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135600
• ClinVar RCV Id: RCV000122449
• dbSNP Id: rs483353031
• MyVariant Identifiers: chr12:g.54677685T>C (hg19) ; chr12:g.54283901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283901T>C , CM000674.2:g.54283901T>C	GRCh38
NC_000012.11:g.54677685T>C , CM000674.1:g.54677685T>C	GRCh37
NC_000012.10:g.52963952T>C	NCBI36
NG_033830.1:g.8198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.997T>C MANE Select	ENSP00000341826.7:p.Phe333Leu
ENST00000550482.2:c.841T>C	ENSP00000446486.2:p.Phe281Leu
ENST00000676472.1:c.129T>C
ENST00000676572.1:c.223T>C
ENST00000676707.1:c.144T>C
ENST00000676725.1:n.1171T>C
ENST00000676794.1:c.16T>C	ENSP00000504819.1:p.Phe6Leu
ENST00000676853.1:c.225T>C
ENST00000676886.1:c.85-357T>C
ENST00000676951.1:c.246T>C
ENST00000677191.1:c.337T>C
ENST00000677210.1:c.997T>C	ENSP00000503610.1:p.Phe333Leu
ENST00000677220.1:c.132+2399T>C	ENSP00000502987.1:n.132+2399T>C
ENST00000677224.1:c.99T>C
ENST00000677249.1:c.838T>C	ENSP00000503649.1:p.Phe280Leu
ENST00000677279.1:c.96T>C
ENST00000677375.1:c.841T>C	ENSP00000503651.1:p.Phe281Leu
ENST00000677385.1:c.*1183T>C	ENSP00000502985.1:n.*1183T>C
ENST00000677518.1:c.90T>C
ENST00000677539.1:c.379T>C
ENST00000677636.1:c.183T>C
ENST00000677778.1:c.75+1027T>C
ENST00000677840.1:c.90T>C
ENST00000677847.1:c.30T>C
ENST00000677945.1:c.168T>C
ENST00000678077.1:c.706T>C	ENSP00000504814.1:p.Phe236Leu
ENST00000678212.1:c.185T>C
ENST00000678279.1:n.76T>C
ENST00000678365.1:n.49-2761T>C
ENST00000678412.1:c.157-357T>C
ENST00000678418.1:n.1193T>C
ENST00000678424.1:c.222T>C
ENST00000678448.1:c.189T>C	ENSP00000503619.1:n.189T>C
ENST00000678456.1:c.76-357T>C
ENST00000678513.1:c.117T>C
ENST00000678581.1:c.225T>C
ENST00000678597.1:c.114T>C
ENST00000678611.1:c.231T>C
ENST00000678873.1:c.165T>C
ENST00000678876.1:c.183T>C
ENST00000678934.1:c.144T>C
ENST00000678970.1:c.166T>C
ENST00000679026.1:c.90T>C
ENST00000679063.1:c.165T>C
ENST00000679079.1:c.157-648T>C
ENST00000679228.1:n.1192T>C
ENST00000679273.1:c.177T>C	ENSP00000504626.1:n.177T>C
ENST00000679344.1:c.198T>C
ENST00000330752.12:c.802T>C	ENSP00000333504.8:p.Phe268Leu
ENST00000340913.10:c.997T>C	ENSP00000341826.6:p.Phe333Leu
ENST00000546500.5:c.841T>C	ENSP00000448617.1:p.Phe281Leu
ENST00000547276.5:c.682T>C	ENSP00000447260.1:p.Phe228Leu
ENST00000547566.5:c.841T>C	ENSP00000449913.1:p.Phe281Leu
ENST00000550482.1:c.454T>C	ENSP00000446486.1:p.Phe152Leu
ENST00000551679.1:n.179T>C
NM_002136.2:c.841T>C	NP_002127.1:p.Phe281Leu
NM_031157.2:c.997T>C	NP_112420.1:p.Phe333Leu
XM_005268826.1:c.997T>C	XP_005268883.1:p.Phe333Leu
XR_245923.1:n.1109T>C
XR_245924.1:n.953T>C
NM_002136.3:c.841T>C	NP_002127.1:p.Phe281Leu
NM_031157.3:c.997T>C	NP_112420.1:p.Phe333Leu
NR_135167.1:n.959T>C
XM_005268826.2:c.997T>C	XP_005268883.1:p.Phe333Leu
XR_245923.2:n.1069T>C
NM_002136.4:c.841T>C	NP_002127.1:p.Phe281Leu
NM_031157.4:c.997T>C MANE Select	NP_112420.1:p.Phe333Leu
NR_135167.2:n.923T>C