Canonical Allele Identifier: CA6577089

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs760697549
• ExAC: 12:52699962 T / G
• gnomAD v2: 12-52699962-T-G
• gnomAD v4: 12-52306178-T-G
• MyVariant Identifiers: chr12:g.52699962T>G (hg19) ; chr12:g.52306178T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306178T>G , CM000674.2:g.52306178T>G	GRCh38
NC_000012.11:g.52699962T>G , CM000674.1:g.52699962T>G	GRCh37
NC_000012.10:g.50986229T>G	NCBI36
NG_008086.1:g.9314T>G
NG_008086.2:g.36534T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423955.7:c.1145T>G (KRT86) MANE Select	ENSP00000444533.1:p.Met382Arg
ENST00000293525.5:c.1145T>G (KRT86)	ENSP00000293525.5:p.Met382Arg
ENST00000423955.6:c.1145T>G (KRT86)	ENSP00000444533.1:p.Met382Arg
NM_002284.3:c.1145T>G (KRT86)	NP_002275.1:p.Met382Arg
XM_005268866.3:c.1376T>G (KRT86)	XP_005268923.1:p.Met459Arg
XM_011538334.1:c.-212+2033A>C (KRT81)	XP_011536636.1:n.-212+2033A>C
XM_011538336.1:c.1145T>G (KRT86)	XP_011536638.1:p.Met382Arg
XM_011538337.1:c.1145T>G (KRT86)	XP_011536639.1:p.Met382Arg
XM_011538338.1:c.1145T>G (KRT86)	XP_011536640.1:p.Met382Arg
NM_001320198.1:c.1145T>G (KRT86)	NP_001307127.1:p.Met382Arg
XM_005268866.4:c.1376T>G (KRT86)	XP_005268923.1:p.Met459Arg
XM_017019296.1:c.1145T>G (KRT86)	XP_016874785.1:p.Met382Arg
NM_001320198.2:c.1145T>G (KRT86) MANE Select	NP_001307127.1:p.Met382Arg