Canonical Allele Identifier: CA118926

Gene: KRT86 KRT81

Linked Data

• ClinVar Variation Id: 7611
• ClinVar RCV Id: RCV000008050 ; RCV000056957
• dbSNP Id: rs60687604
• ExAC: 12:52700021 G / A
• gnomAD v2: 12-52700021-G-A
• gnomAD v3: 12-52306237-G-A
• gnomAD v4: 12-52306237-G-A
• MyVariant Identifiers: chr12:g.52700021G>A (hg19) ; chr12:g.52306237G>A (hg38)
• PubMed: PMID:10469314 ; PMID:10594761 ; PMID:15744029 ; PMID:19400537

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306237G>A , CM000674.2:g.52306237G>A	GRCh38
NC_000012.11:g.52700021G>A , CM000674.1:g.52700021G>A	GRCh37
NC_000012.10:g.50986288G>A	NCBI36
NG_008086.1:g.9373G>A
NG_008086.2:g.36593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.1204G>A (KRT86) MANE Select	ENSP00000444533.1:p.Glu402Lys
ENST00000293525.5:c.1204G>A (KRT86)	ENSP00000293525.5:p.Glu402Lys
ENST00000423955.6:c.1204G>A (KRT86)	ENSP00000444533.1:p.Glu402Lys
NM_002284.3:c.1204G>A (KRT86)	NP_002275.1:p.Glu402Lys
XM_005268866.3:c.1435G>A (KRT86)	XP_005268923.1:p.Glu479Lys
XM_011538334.1:c.-212+1974C>T (KRT81)	XP_011536636.1:n.-212+1974C>T
XM_011538336.1:c.1204G>A (KRT86)	XP_011536638.1:p.Glu402Lys
XM_011538337.1:c.1204G>A (KRT86)	XP_011536639.1:p.Glu402Lys
XM_011538338.1:c.1204G>A (KRT86)	XP_011536640.1:p.Glu402Lys
NM_001320198.1:c.1204G>A (KRT86)	NP_001307127.1:p.Glu402Lys
XM_005268866.4:c.1435G>A (KRT86)	XP_005268923.1:p.Glu479Lys
XM_017019296.1:c.1204G>A (KRT86)	XP_016874785.1:p.Glu402Lys
NM_001320198.2:c.1204G>A (KRT86) MANE Select	NP_001307127.1:p.Glu402Lys