Canonical Allele Identifier: CA163068

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 135603
• ClinVar RCV Id: RCV000122452
• dbSNP Id: rs483353034
• MyVariant Identifiers: chr12:g.54677728A>G (hg19) ; chr12:g.54283944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283944A>G , CM000674.2:g.54283944A>G	GRCh38
NC_000012.11:g.54677728A>G , CM000674.1:g.54677728A>G	GRCh37
NC_000012.10:g.52963995A>G	NCBI36
NG_033830.1:g.8241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.1040A>G MANE Select	ENSP00000341826.7:p.Tyr347Cys
ENST00000550482.2:c.884A>G	ENSP00000446486.2:p.Tyr295Cys
ENST00000676472.1:c.172A>G
ENST00000676572.1:c.266A>G
ENST00000676707.1:c.187A>G
ENST00000676725.1:n.1214A>G
ENST00000676794.1:c.59A>G	ENSP00000504819.1:p.Tyr20Cys
ENST00000676853.1:c.268A>G
ENST00000676886.1:c.85-314A>G
ENST00000676951.1:c.289A>G
ENST00000677191.1:c.380A>G
ENST00000677210.1:c.1040A>G	ENSP00000503610.1:p.Tyr347Cys
ENST00000677220.1:c.132+2442A>G	ENSP00000502987.1:n.132+2442A>G
ENST00000677224.1:c.142A>G
ENST00000677249.1:c.881A>G	ENSP00000503649.1:p.Tyr294Cys
ENST00000677279.1:c.139A>G
ENST00000677375.1:c.884A>G	ENSP00000503651.1:p.Tyr295Cys
ENST00000677385.1:c.*1226A>G	ENSP00000502985.1:n.*1226A>G
ENST00000677518.1:c.103A>G
ENST00000677539.1:c.422A>G
ENST00000677636.1:c.226A>G
ENST00000677778.1:c.75+1070A>G
ENST00000677840.1:c.133A>G
ENST00000677847.1:c.73A>G
ENST00000677945.1:c.211A>G
ENST00000678077.1:c.749A>G	ENSP00000504814.1:p.Tyr250Cys
ENST00000678212.1:c.228A>G
ENST00000678279.1:n.119A>G
ENST00000678365.1:n.49-2718A>G
ENST00000678412.1:c.157-314A>G
ENST00000678418.1:n.1236A>G
ENST00000678424.1:c.265A>G
ENST00000678448.1:c.232A>G	ENSP00000503619.1:n.232A>G
ENST00000678456.1:c.76-314A>G
ENST00000678513.1:c.160A>G
ENST00000678581.1:c.268A>G
ENST00000678597.1:c.157A>G
ENST00000678611.1:c.274A>G
ENST00000678873.1:c.208A>G
ENST00000678876.1:c.226A>G
ENST00000678934.1:c.187A>G
ENST00000678970.1:c.209A>G
ENST00000679026.1:c.133A>G
ENST00000679063.1:c.208A>G
ENST00000679079.1:c.157-605A>G
ENST00000679228.1:n.1235A>G
ENST00000679273.1:c.220A>G	ENSP00000504626.1:n.220A>G
ENST00000679344.1:c.241A>G
ENST00000330752.12:c.845A>G	ENSP00000333504.8:p.Tyr282Cys
ENST00000340913.10:c.1040A>G	ENSP00000341826.6:p.Tyr347Cys
ENST00000546500.5:c.884A>G	ENSP00000448617.1:p.Tyr295Cys
ENST00000547276.5:c.725A>G	ENSP00000447260.1:p.Tyr242Cys
ENST00000547566.5:c.884A>G	ENSP00000449913.1:p.Tyr295Cys
ENST00000550482.1:c.497A>G	ENSP00000446486.1:p.Tyr166Cys
ENST00000551679.1:n.222A>G
NM_002136.2:c.884A>G	NP_002127.1:p.Tyr295Cys
NM_031157.2:c.1040A>G	NP_112420.1:p.Tyr347Cys
XM_005268826.1:c.1040A>G	XP_005268883.1:p.Tyr347Cys
XR_245923.1:n.1152A>G
XR_245924.1:n.996A>G
NM_002136.3:c.884A>G	NP_002127.1:p.Tyr295Cys
NM_031157.3:c.1040A>G	NP_112420.1:p.Tyr347Cys
NR_135167.1:n.1002A>G
XM_005268826.2:c.1040A>G	XP_005268883.1:p.Tyr347Cys
XR_245923.2:n.1112A>G
NM_002136.4:c.884A>G	NP_002127.1:p.Tyr295Cys
NM_031157.4:c.1040A>G MANE Select	NP_112420.1:p.Tyr347Cys
NR_135167.2:n.966A>G