Canonical Allele Identifier: CA479841557

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs1440588884
• gnomAD v2: 12-52700008-G-A
• gnomAD v4: 12-52306224-G-A
• MyVariant Identifiers: chr12:g.52700008G>A (hg19) ; chr12:g.52306224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306224G>A , CM000674.2:g.52306224G>A	GRCh38
NC_000012.11:g.52700008G>A , CM000674.1:g.52700008G>A	GRCh37
NC_000012.10:g.50986275G>A	NCBI36
NG_008086.1:g.9360G>A
NG_008086.2:g.36580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.1191G>A (KRT86) MANE Select	ENSP00000444533.1:p.Leu397=
ENST00000293525.5:c.1191G>A (KRT86)	ENSP00000293525.5:p.Leu397=
ENST00000423955.6:c.1191G>A (KRT86)	ENSP00000444533.1:p.Leu397=
NM_002284.3:c.1191G>A (KRT86)	NP_002275.1:p.Leu397=
XM_005268866.3:c.1422G>A (KRT86)	XP_005268923.1:p.Leu474=
XM_011538334.1:c.-212+1987C>T (KRT81)	XP_011536636.1:n.-212+1987C>T
XM_011538336.1:c.1191G>A (KRT86)	XP_011536638.1:p.Leu397=
XM_011538337.1:c.1191G>A (KRT86)	XP_011536639.1:p.Leu397=
XM_011538338.1:c.1191G>A (KRT86)	XP_011536640.1:p.Leu397=
NM_001320198.1:c.1191G>A (KRT86)	NP_001307127.1:p.Leu397=
XM_005268866.4:c.1422G>A (KRT86)	XP_005268923.1:p.Leu474=
XM_017019296.1:c.1191G>A (KRT86)	XP_016874785.1:p.Leu397=
NM_001320198.2:c.1191G>A (KRT86) MANE Select	NP_001307127.1:p.Leu397=