Canonical Allele Identifier: CA118929

Gene: KRT86 KRT81

Linked Data

• ClinVar Variation Id: 7614
• ClinVar RCV Id: RCV000008053 ; RCV000056965
• dbSNP Id: rs60612575
• gnomAD v4: 12-52302269-C-A
• MyVariant Identifiers: chr12:g.52696053C>A (hg19) ; chr12:g.52302269C>A (hg38)
• PubMed: PMID:10878478

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52302269C>A , CM000674.2:g.52302269C>A	GRCh38
NC_000012.11:g.52696053C>A , CM000674.1:g.52696053C>A	GRCh37
NC_000012.10:g.50982320C>A	NCBI36
NG_008086.1:g.5405C>A
NG_008086.2:g.32625C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.353C>A (KRT86) MANE Select	ENSP00000444533.1:p.Ala118Glu
ENST00000293525.5:c.353C>A (KRT86)	ENSP00000293525.5:p.Ala118Glu
ENST00000423955.6:c.353C>A (KRT86)	ENSP00000444533.1:p.Ala118Glu
ENST00000553310.6:c.353C>A (KRT86)	ENSP00000452237.3:p.Ala118Glu
NM_002284.3:c.353C>A (KRT86)	NP_002275.1:p.Ala118Glu
XM_005268866.3:c.584C>A (KRT86)	XP_005268923.1:p.Ala195Glu
XM_011538334.1:c.-211-625G>T (KRT81)	XP_011536636.1:n.-211-625G>T
XM_011538336.1:c.353C>A (KRT86)	XP_011536638.1:p.Ala118Glu
XM_011538337.1:c.353C>A (KRT86)	XP_011536639.1:p.Ala118Glu
XM_011538338.1:c.353C>A (KRT86)	XP_011536640.1:p.Ala118Glu
NM_001320198.1:c.353C>A (KRT86)	NP_001307127.1:p.Ala118Glu
XM_005268866.4:c.584C>A (KRT86)	XP_005268923.1:p.Ala195Glu
XM_017019296.1:c.353C>A (KRT86)	XP_016874785.1:p.Ala118Glu
NM_001320198.2:c.353C>A (KRT86) MANE Select	NP_001307127.1:p.Ala118Glu