Canonical Allele Identifier: CA384913321

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs1937927854
• gnomAD v4: 12-52286299-A-G
• MyVariant Identifiers: chr12:g.52680083A>G (hg19) ; chr12:g.52286299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52286299A>G , CM000674.2:g.52286299A>G	GRCh38
NC_000012.11:g.52680083A>G , CM000674.1:g.52680083A>G	GRCh37
NC_000012.10:g.50966350A>G	NCBI36
NG_008184.1:g.10217T>C
NG_008086.2:g.16655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.-5+10353A>G (KRT86) MANE Select	ENSP00000444533.1:n.-5+10353A>G
ENST00000327741.9:c.1474T>C (KRT81) MANE Select	ENSP00000369349.4:p.Ser492Pro
ENST00000423955.6:c.-5+10353A>G (KRT86)	ENSP00000444533.1:n.-5+10353A>G
ENST00000553310.6:c.-4-15614A>G (KRT86)	ENSP00000452237.3:n.-4-15614A>G
ENST00000615839.1:c.1420-9T>C (KRT81)	ENSP00000483796.1:n.1420-9T>C
NM_002281.3:c.1474T>C (KRT81)	NP_002272.2:p.Ser492Pro
XM_005268866.3:c.129+10353A>G (KRT86)	XP_005268923.1:n.129+10353A>G
XM_011538334.1:c.1474T>C (KRT81)	XP_011536636.1:p.Ser492Pro
XM_011538336.1:c.-5+10353A>G (KRT86)	XP_011536638.1:n.-5+10353A>G
XM_011538337.1:c.-5+10353A>G (KRT86)	XP_011536639.1:n.-5+10353A>G
XM_011538338.1:c.-5+10353A>G (KRT86)	XP_011536640.1:n.-5+10353A>G
NM_001320198.1:c.-5+10353A>G (KRT86)	NP_001307127.1:n.-5+10353A>G
XM_005268866.4:c.129+10353A>G (KRT86)	XP_005268923.1:n.129+10353A>G
XM_017019296.1:c.-103+10353A>G (KRT86)	XP_016874785.1:n.-103+10353A>G
NM_001320198.2:c.-5+10353A>G (KRT86) MANE Select	NP_001307127.1:n.-5+10353A>G
NM_002281.4:c.1474T>C (KRT81) MANE Select	NP_002272.2:p.Ser492Pro