Canonical Allele Identifier: CA216615
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 14596
ClinVar RCV Id: RCV000015700 RCV000056518
dbSNP Id: rs28928899
MyVariant Identifiers: chr17:g.39780478A>G (hg19) chr17:g.41624226A>G (hg38)
PubMed: PMID:11886499
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624226A>G , CM000679.2:g.41624226A>G GRCh38
NC_000017.10:g.39780478A>G , CM000679.1:g.39780478A>G GRCh37
NC_000017.9:g.37034004A>G NCBI36
NG_008625.1:g.5405T>C
NG_009090.2:g.167487T>C , LRG_401:g.167487T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311208.13:c.284T>C MANE Select ENSP00000308452.8:p.Leu95Pro
ENST00000311208.12:c.284T>C ENSP00000308452.8:p.Leu95Pro
ENST00000463128.5:c.-312-20T>C ENSP00000468672.1:n.-312-20T>C
ENST00000491673.1:n.350T>C
ENST00000493253.5:n.71T>C
ENST00000540235.5:c.71+8T>C ENSP00000441751.2:n.71+8T>C
ENST00000577817.3:c.239T>C ENSP00000467418.1:p.Leu80Pro
NM_000422.2:c.284T>C NP_000413.1:p.Leu95Pro
NM_000422.3:c.284T>C MANE Select NP_000413.1:p.Leu95Pro
Search 100 bp 5'
Search 100 bp 3'