Canonical Allele Identifier: CA118924

Gene: KRT86 KRT81

Linked Data

• ClinVar Variation Id: 7609
• ClinVar RCV Id: RCV000008048 ; RCV000056959
• dbSNP Id: rs121909129
• gnomAD v4: 12-52306270-G-A
• MyVariant Identifiers: chr12:g.52700054G>A (hg19) ; chr12:g.52306270G>A (hg38)
• PubMed: PMID:9241275 ; PMID:9457912 ; PMID:9665406 ; PMID:9804356 ; PMID:10469314 ; PMID:15050877

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306270G>A , CM000674.2:g.52306270G>A	GRCh38
NC_000012.11:g.52700054G>A , CM000674.1:g.52700054G>A	GRCh37
NC_000012.10:g.50986321G>A	NCBI36
NG_008086.1:g.9406G>A
NG_008086.2:g.36626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.1237G>A (KRT86) MANE Select	ENSP00000444533.1:p.Glu413Lys
ENST00000293525.5:c.1237G>A (KRT86)	ENSP00000293525.5:p.Glu413Lys
ENST00000423955.6:c.1237G>A (KRT86)	ENSP00000444533.1:p.Glu413Lys
NM_002284.3:c.1237G>A (KRT86)	NP_002275.1:p.Glu413Lys
XM_005268866.3:c.1468G>A (KRT86)	XP_005268923.1:p.Glu490Lys
XM_011538334.1:c.-212+1941C>T (KRT81)	XP_011536636.1:n.-212+1941C>T
XM_011538336.1:c.1237G>A (KRT86)	XP_011536638.1:p.Glu413Lys
XM_011538337.1:c.1237G>A (KRT86)	XP_011536639.1:p.Glu413Lys
XM_011538338.1:c.1237G>A (KRT86)	XP_011536640.1:p.Glu413Lys
NM_001320198.1:c.1237G>A (KRT86)	NP_001307127.1:p.Glu413Lys
XM_005268866.4:c.1468G>A (KRT86)	XP_005268923.1:p.Glu490Lys
XM_017019296.1:c.1237G>A (KRT86)	XP_016874785.1:p.Glu413Lys
NM_001320198.2:c.1237G>A (KRT86) MANE Select	NP_001307127.1:p.Glu413Lys