Canonical Allele Identifier: CA384913302

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs1167347303
• gnomAD v2: 12-52680074-C-T
• gnomAD v4: 12-52286290-C-T
• MyVariant Identifiers: chr12:g.52680074C>T (hg19) ; chr12:g.52286290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52286290C>T , CM000674.2:g.52286290C>T	GRCh38
NC_000012.11:g.52680074C>T , CM000674.1:g.52680074C>T	GRCh37
NC_000012.10:g.50966341C>T	NCBI36
NG_008184.1:g.10226G>A
NG_008086.2:g.16646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.-5+10344C>T (KRT86) MANE Select	ENSP00000444533.1:n.-5+10344C>T
ENST00000327741.9:c.1483G>A (KRT81) MANE Select	ENSP00000369349.4:p.Val495Met
ENST00000423955.6:c.-5+10344C>T (KRT86)	ENSP00000444533.1:n.-5+10344C>T
ENST00000553310.6:c.-4-15623C>T (KRT86)	ENSP00000452237.3:n.-4-15623C>T
ENST00000615839.1:c.1420G>A (KRT81)	ENSP00000483796.1:p.Val474Met
NM_002281.3:c.1483G>A (KRT81)	NP_002272.2:p.Val495Met
XM_005268866.3:c.129+10344C>T (KRT86)	XP_005268923.1:n.129+10344C>T
XM_011538334.1:c.1483G>A (KRT81)	XP_011536636.1:p.Val495Met
XM_011538336.1:c.-5+10344C>T (KRT86)	XP_011536638.1:n.-5+10344C>T
XM_011538337.1:c.-5+10344C>T (KRT86)	XP_011536639.1:n.-5+10344C>T
XM_011538338.1:c.-5+10344C>T (KRT86)	XP_011536640.1:n.-5+10344C>T
NM_001320198.1:c.-5+10344C>T (KRT86)	NP_001307127.1:n.-5+10344C>T
XM_005268866.4:c.129+10344C>T (KRT86)	XP_005268923.1:n.129+10344C>T
XM_017019296.1:c.-103+10344C>T (KRT86)	XP_016874785.1:n.-103+10344C>T
NM_001320198.2:c.-5+10344C>T (KRT86) MANE Select	NP_001307127.1:n.-5+10344C>T
NM_002281.4:c.1483G>A (KRT81) MANE Select	NP_002272.2:p.Val495Met