Canonical Allele Identifier: CA163035

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135592
• ClinVar RCV Id: RCV000122441
• dbSNP Id: rs483353022
• MyVariant Identifiers: chr12:g.54677631T>C (hg19) ; chr12:g.54283847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283847T>C , CM000674.2:g.54283847T>C	GRCh38
NC_000012.11:g.54677631T>C , CM000674.1:g.54677631T>C	GRCh37
NC_000012.10:g.52963898T>C	NCBI36
NG_033830.1:g.8144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.943T>C MANE Select	ENSP00000341826.7:p.Phe315Leu
ENST00000550482.2:c.787T>C	ENSP00000446486.2:p.Phe263Leu
ENST00000676472.1:c.75T>C
ENST00000676572.1:c.169T>C
ENST00000676707.1:c.90T>C
ENST00000676725.1:n.1117T>C
ENST00000676794.1:c.-39T>C	ENSP00000504819.1:n.-39T>C
ENST00000676853.1:c.171T>C
ENST00000676886.1:c.85-411T>C
ENST00000676951.1:c.192T>C
ENST00000677191.1:c.283T>C
ENST00000677210.1:c.943T>C	ENSP00000503610.1:p.Phe315Leu
ENST00000677220.1:c.132+2345T>C	ENSP00000502987.1:n.132+2345T>C
ENST00000677224.1:c.45T>C
ENST00000677249.1:c.784T>C	ENSP00000503649.1:p.Phe262Leu
ENST00000677279.1:c.42T>C
ENST00000677375.1:c.787T>C	ENSP00000503651.1:p.Phe263Leu
ENST00000677385.1:c.*1129T>C	ENSP00000502985.1:n.*1129T>C
ENST00000677518.1:c.36T>C
ENST00000677539.1:c.325T>C
ENST00000677636.1:c.129T>C
ENST00000677778.1:c.75+973T>C
ENST00000677840.1:c.36T>C
ENST00000677847.1:c.24+12T>C
ENST00000677945.1:c.114T>C
ENST00000678077.1:c.652T>C	ENSP00000504814.1:p.Phe218Leu
ENST00000678212.1:c.131T>C
ENST00000678279.1:n.67-45T>C
ENST00000678365.1:n.49-2815T>C
ENST00000678412.1:c.157-411T>C
ENST00000678418.1:n.1139T>C
ENST00000678424.1:c.168T>C
ENST00000678448.1:c.135T>C	ENSP00000503619.1:p.Ile45=
ENST00000678456.1:c.76-411T>C
ENST00000678513.1:c.63T>C
ENST00000678581.1:c.171T>C
ENST00000678597.1:c.60T>C
ENST00000678611.1:c.177T>C
ENST00000678873.1:c.111T>C
ENST00000678876.1:c.129T>C
ENST00000678934.1:c.90T>C
ENST00000678970.1:c.157-45T>C
ENST00000679026.1:c.36T>C
ENST00000679063.1:c.111T>C
ENST00000679079.1:c.156+613T>C
ENST00000679228.1:n.1138T>C
ENST00000679273.1:c.123T>C	ENSP00000504626.1:p.Ile41=
ENST00000679344.1:c.144T>C
ENST00000330752.12:c.748T>C	ENSP00000333504.8:p.Phe250Leu
ENST00000340913.10:c.943T>C	ENSP00000341826.6:p.Phe315Leu
ENST00000546500.5:c.787T>C	ENSP00000448617.1:p.Phe263Leu
ENST00000547276.5:c.628T>C	ENSP00000447260.1:p.Phe210Leu
ENST00000547566.5:c.787T>C	ENSP00000449913.1:p.Phe263Leu
ENST00000547708.5:c.439T>C	ENSP00000448229.1:p.Phe147Leu
ENST00000550482.1:c.400T>C	ENSP00000446486.1:p.Phe134Leu
ENST00000551679.1:n.125T>C
NM_002136.2:c.787T>C	NP_002127.1:p.Phe263Leu
NM_031157.2:c.943T>C	NP_112420.1:p.Phe315Leu
XM_005268826.1:c.943T>C	XP_005268883.1:p.Phe315Leu
XR_245923.1:n.1055T>C
XR_245924.1:n.899T>C
NM_002136.3:c.787T>C	NP_002127.1:p.Phe263Leu
NM_031157.3:c.943T>C	NP_112420.1:p.Phe315Leu
NR_135167.1:n.905T>C
XM_005268826.2:c.943T>C	XP_005268883.1:p.Phe315Leu
XR_245923.2:n.1015T>C
NM_002136.4:c.787T>C	NP_002127.1:p.Phe263Leu
NM_031157.4:c.943T>C MANE Select	NP_112420.1:p.Phe315Leu
NR_135167.2:n.869T>C