Canonical Allele Identifier: CA163050

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135597
• ClinVar RCV Id: RCV000122446
• dbSNP Id: rs483353024
• MyVariant Identifiers: chr12:g.54677670A>C (hg19) ; chr12:g.54283886A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283886A>C , CM000674.2:g.54283886A>C	GRCh38
NC_000012.11:g.54677670A>C , CM000674.1:g.54677670A>C	GRCh37
NC_000012.10:g.52963937A>C	NCBI36
NG_033830.1:g.8183A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.982A>C MANE Select	ENSP00000341826.7:p.Met328Leu
ENST00000550482.2:c.826A>C	ENSP00000446486.2:p.Met276Leu
ENST00000676472.1:c.114A>C
ENST00000676572.1:c.208A>C
ENST00000676707.1:c.129A>C
ENST00000676725.1:n.1156A>C
ENST00000676794.1:c.1A>C	ENSP00000504819.1:p.Met1Leu
ENST00000676853.1:c.210A>C
ENST00000676886.1:c.85-372A>C
ENST00000676951.1:c.231A>C
ENST00000677191.1:c.322A>C
ENST00000677210.1:c.982A>C	ENSP00000503610.1:p.Met328Leu
ENST00000677220.1:c.132+2384A>C	ENSP00000502987.1:n.132+2384A>C
ENST00000677224.1:c.84A>C
ENST00000677249.1:c.823A>C	ENSP00000503649.1:p.Met275Leu
ENST00000677279.1:c.81A>C
ENST00000677375.1:c.826A>C	ENSP00000503651.1:p.Met276Leu
ENST00000677385.1:c.*1168A>C	ENSP00000502985.1:n.*1168A>C
ENST00000677518.1:c.75A>C
ENST00000677539.1:c.364A>C
ENST00000677636.1:c.168A>C
ENST00000677778.1:c.75+1012A>C
ENST00000677840.1:c.75A>C
ENST00000677847.1:c.25-10A>C
ENST00000677945.1:c.153A>C
ENST00000678077.1:c.691A>C	ENSP00000504814.1:p.Met231Leu
ENST00000678212.1:c.170A>C
ENST00000678279.1:n.67-6A>C
ENST00000678365.1:n.49-2776A>C
ENST00000678412.1:c.157-372A>C
ENST00000678418.1:n.1178A>C
ENST00000678424.1:c.207A>C
ENST00000678448.1:c.174A>C	ENSP00000503619.1:p.Pro58=
ENST00000678456.1:c.76-372A>C
ENST00000678513.1:c.102A>C
ENST00000678581.1:c.210A>C
ENST00000678597.1:c.99A>C
ENST00000678611.1:c.216A>C
ENST00000678873.1:c.150A>C
ENST00000678876.1:c.168A>C
ENST00000678934.1:c.129A>C
ENST00000678970.1:c.157-6A>C
ENST00000679026.1:c.75A>C
ENST00000679063.1:c.150A>C
ENST00000679079.1:c.156+652A>C
ENST00000679228.1:n.1177A>C
ENST00000679273.1:c.162A>C	ENSP00000504626.1:p.Pro54=
ENST00000679344.1:c.183A>C
ENST00000330752.12:c.787A>C	ENSP00000333504.8:p.Met263Leu
ENST00000340913.10:c.982A>C	ENSP00000341826.6:p.Met328Leu
ENST00000546500.5:c.826A>C	ENSP00000448617.1:p.Met276Leu
ENST00000547276.5:c.667A>C	ENSP00000447260.1:p.Met223Leu
ENST00000547566.5:c.826A>C	ENSP00000449913.1:p.Met276Leu
ENST00000550482.1:c.439A>C	ENSP00000446486.1:p.Met147Leu
ENST00000551679.1:n.164A>C
NM_002136.2:c.826A>C	NP_002127.1:p.Met276Leu
NM_031157.2:c.982A>C	NP_112420.1:p.Met328Leu
XM_005268826.1:c.982A>C	XP_005268883.1:p.Met328Leu
XR_245923.1:n.1094A>C
XR_245924.1:n.938A>C
NM_002136.3:c.826A>C	NP_002127.1:p.Met276Leu
NM_031157.3:c.982A>C	NP_112420.1:p.Met328Leu
NR_135167.1:n.944A>C
XM_005268826.2:c.982A>C	XP_005268883.1:p.Met328Leu
XR_245923.2:n.1054A>C
NM_002136.4:c.826A>C	NP_002127.1:p.Met276Leu
NM_031157.4:c.982A>C MANE Select	NP_112420.1:p.Met328Leu
NR_135167.2:n.908A>C