Canonical Allele Identifier: CA385122510

Gene: HNRNPA1

Linked Data

• gnomAD v4: 12-54283948-T-G
• MyVariant Identifiers: chr12:g.54677732T>G (hg19) ; chr12:g.54283948T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283948T>G , CM000674.2:g.54283948T>G	GRCh38
NC_000012.11:g.54677732T>G , CM000674.1:g.54677732T>G	GRCh37
NC_000012.10:g.52963999T>G	NCBI36
NG_033830.1:g.8245T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.1044T>G MANE Select	ENSP00000341826.7:p.Phe348Leu
ENST00000550482.2:c.888T>G	ENSP00000446486.2:p.Phe296Leu
ENST00000676472.1:c.176T>G
ENST00000676572.1:c.270T>G
ENST00000676707.1:c.191T>G
ENST00000676725.1:n.1218T>G
ENST00000676794.1:c.63T>G	ENSP00000504819.1:p.Phe21Leu
ENST00000676853.1:c.272T>G
ENST00000676886.1:c.85-310T>G
ENST00000676951.1:c.293T>G
ENST00000677191.1:c.384T>G
ENST00000677210.1:c.1044T>G	ENSP00000503610.1:p.Phe348Leu
ENST00000677220.1:c.132+2446T>G	ENSP00000502987.1:n.132+2446T>G
ENST00000677224.1:c.146T>G
ENST00000677249.1:c.885T>G	ENSP00000503649.1:p.Phe295Leu
ENST00000677279.1:c.143T>G
ENST00000677375.1:c.888T>G	ENSP00000503651.1:p.Phe296Leu
ENST00000677385.1:c.*1230T>G	ENSP00000502985.1:n.*1230T>G
ENST00000677518.1:c.107T>G
ENST00000677539.1:c.426T>G
ENST00000677636.1:c.230T>G
ENST00000677778.1:c.75+1074T>G
ENST00000677840.1:c.137T>G
ENST00000677847.1:c.77T>G
ENST00000677945.1:c.215T>G
ENST00000678077.1:c.753T>G	ENSP00000504814.1:p.Phe251Leu
ENST00000678212.1:c.232T>G
ENST00000678279.1:n.123T>G
ENST00000678365.1:n.49-2714T>G
ENST00000678412.1:c.157-310T>G
ENST00000678418.1:n.1240T>G
ENST00000678424.1:c.269T>G
ENST00000678448.1:c.236T>G	ENSP00000503619.1:n.236T>G
ENST00000678456.1:c.76-310T>G
ENST00000678513.1:c.164T>G
ENST00000678581.1:c.272T>G
ENST00000678597.1:c.161T>G
ENST00000678611.1:c.278T>G
ENST00000678873.1:c.212T>G
ENST00000678876.1:c.230T>G
ENST00000678934.1:c.191T>G
ENST00000678970.1:c.213T>G
ENST00000679026.1:c.137T>G
ENST00000679063.1:c.212T>G
ENST00000679079.1:c.157-601T>G
ENST00000679228.1:n.1239T>G
ENST00000679273.1:c.224T>G	ENSP00000504626.1:n.224T>G
ENST00000679344.1:c.245T>G
ENST00000330752.12:c.849T>G	ENSP00000333504.8:p.Phe283Leu
ENST00000340913.10:c.1044T>G	ENSP00000341826.6:p.Phe348Leu
ENST00000546500.5:c.888T>G	ENSP00000448617.1:p.Phe296Leu
ENST00000547276.5:c.729T>G	ENSP00000447260.1:p.Phe243Leu
ENST00000547566.5:c.888T>G	ENSP00000449913.1:p.Phe296Leu
ENST00000550482.1:c.501T>G	ENSP00000446486.1:p.Phe167Leu
ENST00000551679.1:n.226T>G
NM_002136.2:c.888T>G	NP_002127.1:p.Phe296Leu
NM_031157.2:c.1044T>G	NP_112420.1:p.Phe348Leu
XM_005268826.1:c.1044T>G	XP_005268883.1:p.Phe348Leu
XR_245923.1:n.1156T>G
XR_245924.1:n.1000T>G
NM_002136.3:c.888T>G	NP_002127.1:p.Phe296Leu
NM_031157.3:c.1044T>G	NP_112420.1:p.Phe348Leu
NR_135167.1:n.1006T>G
XM_005268826.2:c.1044T>G	XP_005268883.1:p.Phe348Leu
XR_245923.2:n.1116T>G
NM_002136.4:c.888T>G	NP_002127.1:p.Phe296Leu
NM_031157.4:c.1044T>G MANE Select	NP_112420.1:p.Phe348Leu
NR_135167.2:n.970T>G