Canonical Allele Identifier: CA216623
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 14598
dbSNP Id: rs28933089

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624214A>G , CM000679.2:g.41624214A>G GRCh38
NC_000017.10:g.39780466A>G , CM000679.1:g.39780466A>G GRCh37
NC_000017.9:g.37033992A>G NCBI36
NG_008625.1:g.5417T>C
NG_009090.2:g.167499T>C , LRG_401:g.167499T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.296T>C MANE Select ENSP00000308452.8:p.Leu99Pro
ENST00000311208.12:c.296T>C ENSP00000308452.8:p.Leu99Pro
ENST00000463128.5:c.-312-8T>C ENSP00000468672.1:n.-312-8T>C
ENST00000491673.1:n.362T>C
ENST00000493253.5:n.83T>C
ENST00000540235.5:c.71+20T>C ENSP00000441751.2:n.71+20T>C
ENST00000577817.3:c.251T>C ENSP00000467418.1:p.Leu84Pro
NM_000422.2:c.296T>C NP_000413.1:p.Leu99Pro
NM_000422.3:c.296T>C MANE Select NP_000413.1:p.Leu99Pro