Canonical Allele Identifier: CA384918863

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52306069C>G , CM000674.2:g.52306069C>G GRCh38
NC_000012.11:g.52699853C>G , CM000674.1:g.52699853C>G GRCh37
NC_000012.10:g.50986120C>G NCBI36
NG_008086.1:g.9205C>G
NG_008086.2:g.36425C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423955.7:c.1036C>G (KRT86) MANE Select ENSP00000444533.1:p.Leu346Val
ENST00000293525.5:c.1036C>G (KRT86) ENSP00000293525.5:p.Leu346Val
ENST00000423955.6:c.1036C>G (KRT86) ENSP00000444533.1:p.Leu346Val
NM_002284.3:c.1036C>G (KRT86) NP_002275.1:p.Leu346Val
XM_005268866.3:c.1267C>G (KRT86) XP_005268923.1:p.Leu423Val
XM_011538334.1:c.-212+2142G>C (KRT81) XP_011536636.1:n.-212+2142G>C
XM_011538336.1:c.1036C>G (KRT86) XP_011536638.1:p.Leu346Val
XM_011538337.1:c.1036C>G (KRT86) XP_011536639.1:p.Leu346Val
XM_011538338.1:c.1036C>G (KRT86) XP_011536640.1:p.Leu346Val
NM_001320198.1:c.1036C>G (KRT86) NP_001307127.1:p.Leu346Val
XM_005268866.4:c.1267C>G (KRT86) XP_005268923.1:p.Leu423Val
XM_017019296.1:c.1036C>G (KRT86) XP_016874785.1:p.Leu346Val
NM_001320198.2:c.1036C>G (KRT86) MANE Select NP_001307127.1:p.Leu346Val