Canonical Allele Identifier: CA384919176

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs2121314753
• gnomAD v4: 12-52306216-T-C
• MyVariant Identifiers: chr12:g.52700000T>C (hg19) ; chr12:g.52306216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306216T>C , CM000674.2:g.52306216T>C	GRCh38
NC_000012.11:g.52700000T>C , CM000674.1:g.52700000T>C	GRCh37
NC_000012.10:g.50986267T>C	NCBI36
NG_008086.1:g.9352T>C
NG_008086.2:g.36572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.1183T>C (KRT86) MANE Select	ENSP00000444533.1:p.Ser395Pro
ENST00000293525.5:c.1183T>C (KRT86)	ENSP00000293525.5:p.Ser395Pro
ENST00000423955.6:c.1183T>C (KRT86)	ENSP00000444533.1:p.Ser395Pro
NM_002284.3:c.1183T>C (KRT86)	NP_002275.1:p.Ser395Pro
XM_005268866.3:c.1414T>C (KRT86)	XP_005268923.1:p.Ser472Pro
XM_011538334.1:c.-212+1995A>G (KRT81)	XP_011536636.1:n.-212+1995A>G
XM_011538336.1:c.1183T>C (KRT86)	XP_011536638.1:p.Ser395Pro
XM_011538337.1:c.1183T>C (KRT86)	XP_011536639.1:p.Ser395Pro
XM_011538338.1:c.1183T>C (KRT86)	XP_011536640.1:p.Ser395Pro
NM_001320198.1:c.1183T>C (KRT86)	NP_001307127.1:p.Ser395Pro
XM_005268866.4:c.1414T>C (KRT86)	XP_005268923.1:p.Ser472Pro
XM_017019296.1:c.1183T>C (KRT86)	XP_016874785.1:p.Ser395Pro
NM_001320198.2:c.1183T>C (KRT86) MANE Select	NP_001307127.1:p.Ser395Pro