Canonical Allele Identifier: CA6577052

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs372469887
• ExAC: 12:52699851 A / G
• gnomAD v2: 12-52699851-A-G
• gnomAD v4: 12-52306067-A-G
• MyVariant Identifiers: chr12:g.52699851A>G (hg19) ; chr12:g.52306067A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306067A>G , CM000674.2:g.52306067A>G	GRCh38
NC_000012.11:g.52699851A>G , CM000674.1:g.52699851A>G	GRCh37
NC_000012.10:g.50986118A>G	NCBI36
NG_008086.1:g.9203A>G
NG_008086.2:g.36423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.1034A>G (KRT86) MANE Select	ENSP00000444533.1:p.Lys345Arg
ENST00000293525.5:c.1034A>G (KRT86)	ENSP00000293525.5:p.Lys345Arg
ENST00000423955.6:c.1034A>G (KRT86)	ENSP00000444533.1:p.Lys345Arg
NM_002284.3:c.1034A>G (KRT86)	NP_002275.1:p.Lys345Arg
XM_005268866.3:c.1265A>G (KRT86)	XP_005268923.1:p.Lys422Arg
XM_011538334.1:c.-212+2144T>C (KRT81)	XP_011536636.1:n.-212+2144T>C
XM_011538336.1:c.1034A>G (KRT86)	XP_011536638.1:p.Lys345Arg
XM_011538337.1:c.1034A>G (KRT86)	XP_011536639.1:p.Lys345Arg
XM_011538338.1:c.1034A>G (KRT86)	XP_011536640.1:p.Lys345Arg
NM_001320198.1:c.1034A>G (KRT86)	NP_001307127.1:p.Lys345Arg
XM_005268866.4:c.1265A>G (KRT86)	XP_005268923.1:p.Lys422Arg
XM_017019296.1:c.1034A>G (KRT86)	XP_016874785.1:p.Lys345Arg
NM_001320198.2:c.1034A>G (KRT86) MANE Select	NP_001307127.1:p.Lys345Arg