Canonical Allele Identifier: CA10603211

Gene: HNRNPK

Linked Data

• ClinVar Variation Id: 280716
• ClinVar RCV Id: RCV000347519
• dbSNP Id: rs767454980
• MyVariant Identifiers: chr9:g.86585188G>T (hg19) ; chr9:g.83970273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.83970273G>T , CM000671.2:g.83970273G>T	GRCh38
NC_000009.11:g.86585188G>T , CM000671.1:g.86585188G>T	GRCh37
NC_000009.10:g.85775008G>T	NCBI36
NG_029577.1:g.15382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457156.6:c.1178C>A	ENSP00000409456.2:p.Ser393Ter
ENST00000472778.6:c.*972C>A	ENSP00000475098.1:n.*972C>A
ENST00000704004.1:c.1178C>A	ENSP00000515617.1:p.Ser393Ter
ENST00000704005.1:c.1250C>A	ENSP00000515618.1:p.Ser417Ter
ENST00000704006.1:c.1250C>A	ENSP00000515619.1:p.Ser417Ter
ENST00000704007.1:c.1178C>A	ENSP00000515620.1:p.Ser393Ter
ENST00000704008.1:c.1178C>A	ENSP00000515621.1:p.Ser393Ter
ENST00000704009.1:c.*900C>A	ENSP00000515622.1:n.*900C>A
ENST00000704010.1:c.1235C>A	ENSP00000515623.1:p.Ser412Ter
ENST00000704011.1:c.1250C>A	ENSP00000515624.1:p.Ser417Ter
ENST00000704012.1:c.1235C>A	ENSP00000515625.1:p.Ser412Ter
ENST00000704013.1:c.1178C>A	ENSP00000515626.1:p.Ser393Ter
ENST00000704014.1:c.1250C>A	ENSP00000515627.1:p.Ser417Ter
ENST00000704015.1:c.1250C>A	ENSP00000515628.1:p.Ser417Ter
ENST00000704051.1:c.1250C>A	ENSP00000515654.1:p.Ser417Ter
ENST00000704052.1:c.1250C>A	ENSP00000515655.1:p.Ser417Ter
ENST00000704053.1:c.1250C>A	ENSP00000515656.1:p.Ser417Ter
ENST00000704054.1:c.1163C>A	ENSP00000515657.1:p.Ser388Ter
ENST00000704055.1:c.1235C>A	ENSP00000515658.1:p.Ser412Ter
ENST00000704056.1:c.1163C>A	ENSP00000515659.1:p.Ser388Ter
ENST00000704057.1:c.1250C>A	ENSP00000515660.1:p.Ser417Ter
ENST00000704058.1:c.1250C>A	ENSP00000515661.1:p.Ser417Ter
ENST00000704059.1:c.1250C>A	ENSP00000515662.1:p.Ser417Ter
ENST00000376263.8:c.1250C>A MANE Select	ENSP00000365439.3:p.Ser417Ter
ENST00000351839.7:c.1250C>A	ENSP00000317788.4:p.Ser417Ter
ENST00000360384.9:c.1250C>A	ENSP00000353552.5:p.Ser417Ter
ENST00000376263.7:c.1250C>A	ENSP00000365439.3:p.Ser417Ter
ENST00000376281.8:c.1250C>A	ENSP00000365458.4:p.Ser417Ter
ENST00000481820.6:c.180C>A
ENST00000492865.1:n.392C>A
ENST00000493362.1:n.514C>A
NM_002140.3:c.1250C>A	NP_002131.2:p.Ser417Ter
NM_031262.2:c.1250C>A	NP_112552.1:p.Ser417Ter
NM_031263.2:c.1250C>A	NP_112553.1:p.Ser417Ter
XM_005251960.2:c.1250C>A	XP_005252017.1:p.Ser417Ter
XM_005251961.1:c.1250C>A	XP_005252018.1:p.Ser417Ter
XM_005251963.3:c.1178C>A	XP_005252020.1:p.Ser393Ter
XM_005251964.2:c.1178C>A	XP_005252021.1:p.Ser393Ter
XM_005251965.2:c.1178C>A	XP_005252022.1:p.Ser393Ter
XM_005251966.2:c.1178C>A	XP_005252023.1:p.Ser393Ter
XM_011518616.1:c.1178C>A	XP_011516918.1:p.Ser393Ter
NM_001318186.1:c.1178C>A	NP_001305115.1:p.Ser393Ter
NM_001318187.1:c.1178C>A	NP_001305116.1:p.Ser393Ter
NM_001318188.1:c.1250C>A	NP_001305117.1:p.Ser417Ter
NM_002140.4:c.1250C>A	NP_002131.2:p.Ser417Ter
NM_031262.3:c.1250C>A	NP_112552.1:p.Ser417Ter
NM_031263.3:c.1250C>A	NP_112553.1:p.Ser417Ter
XM_005251963.4:c.1178C>A	XP_005252020.1:p.Ser393Ter
XM_005251965.3:c.1178C>A	XP_005252022.1:p.Ser393Ter
XM_011518616.2:c.1178C>A	XP_011516918.1:p.Ser393Ter
XM_017014668.1:c.1250C>A	XP_016870157.1:p.Ser417Ter
XM_017014669.1:c.1178C>A	XP_016870158.1:p.Ser393Ter
NM_031263.4:c.1250C>A MANE Select	NP_112553.1:p.Ser417Ter
NM_001318186.2:c.1178C>A	NP_001305115.1:p.Ser393Ter
NM_001318187.2:c.1178C>A	NP_001305116.1:p.Ser393Ter
NM_001318188.2:c.1250C>A	NP_001305117.1:p.Ser417Ter
NM_002140.5:c.1250C>A	NP_002131.2:p.Ser417Ter
NM_031262.4:c.1250C>A	NP_112552.1:p.Ser417Ter