Canonical Allele Identifier: CA170633

Gene: HNRNPDL

Linked Data

• ClinVar Variation Id: 144073
• ClinVar RCV Id: RCV000133585
• dbSNP Id: rs587777669
• MyVariant Identifiers: chr4:g.83347676C>T (hg19) ; chr4:g.82426523C>T (hg38)
• PubMed: PMID:15367920 ; PMID:24647604

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.82426523C>T , CM000666.2:g.82426523C>T	GRCh38
NC_000004.11:g.83347676C>T , CM000666.1:g.83347676C>T	GRCh37
NC_000004.10:g.83566700C>T	NCBI36
NG_029681.1:g.8703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295470.10:c.1132G>A MANE Select	ENSP00000295470.5:p.Asp378Asn
ENST00000295470.9:c.1132G>A	ENSP00000295470.5:p.Asp378Asn
ENST00000349655.8:c.775G>A	ENSP00000338552.5:p.Asp259Asn
ENST00000502762.4:c.1132G>A	ENSP00000422040.1:p.Asp378Asn
ENST00000507721.5:c.775G>A	ENSP00000480156.1:p.Asp259Asn
ENST00000514511.1:c.*270G>A	ENSP00000478269.1:n.*270G>A
ENST00000602300.5:c.775G>A	ENSP00000473677.1:p.Asp259Asn
ENST00000614627.4:c.1022-394G>A	ENSP00000478723.1:n.1022-394G>A
ENST00000621267.4:c.1132G>A	ENSP00000483254.1:p.Asp378Asn
ENST00000630114.2:c.775G>A	ENSP00000486452.1:p.Asp259Asn
ENST00000630827.1:c.775G>A	ENSP00000485954.1:p.Asp259Asn
NM_001207000.1:c.1022-394G>A	NP_001193929.1:n.1022-394G>A
NM_031372.3:c.1132G>A	NP_112740.1:p.Asp378Asn
NR_003249.2:n.1667G>A
NM_031372.4:c.1132G>A MANE Select	NP_112740.1:p.Asp378Asn