Canonical Allele Identifier: CA384918980

Gene: KRT86 KRT81

Linked Data

• gnomAD v4: 12-52306127-G-C
• MyVariant Identifiers: chr12:g.52699911G>C (hg19) ; chr12:g.52306127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306127G>C , CM000674.2:g.52306127G>C	GRCh38
NC_000012.11:g.52699911G>C , CM000674.1:g.52699911G>C	GRCh37
NC_000012.10:g.50986178G>C	NCBI36
NG_008086.1:g.9263G>C
NG_008086.2:g.36483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.1094G>C (KRT86) MANE Select	ENSP00000444533.1:p.Arg365Pro
ENST00000293525.5:c.1094G>C (KRT86)	ENSP00000293525.5:p.Arg365Pro
ENST00000423955.6:c.1094G>C (KRT86)	ENSP00000444533.1:p.Arg365Pro
NM_002284.3:c.1094G>C (KRT86)	NP_002275.1:p.Arg365Pro
XM_005268866.3:c.1325G>C (KRT86)	XP_005268923.1:p.Arg442Pro
XM_011538334.1:c.-212+2084C>G (KRT81)	XP_011536636.1:n.-212+2084C>G
XM_011538336.1:c.1094G>C (KRT86)	XP_011536638.1:p.Arg365Pro
XM_011538337.1:c.1094G>C (KRT86)	XP_011536639.1:p.Arg365Pro
XM_011538338.1:c.1094G>C (KRT86)	XP_011536640.1:p.Arg365Pro
NM_001320198.1:c.1094G>C (KRT86)	NP_001307127.1:p.Arg365Pro
XM_005268866.4:c.1325G>C (KRT86)	XP_005268923.1:p.Arg442Pro
XM_017019296.1:c.1094G>C (KRT86)	XP_016874785.1:p.Arg365Pro
NM_001320198.2:c.1094G>C (KRT86) MANE Select	NP_001307127.1:p.Arg365Pro