Canonical Allele Identifier: CA126043
Gene: KRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15908
ClinVar RCV Id: RCV000017259 RCV000057083
dbSNP Id: rs57695159
MyVariant Identifiers: chr12:g.53073651A>G (hg19) chr12:g.52679867A>G (hg38)
PubMed: PMID:1284546 PMID:1381288
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52679867A>G , CM000674.2:g.52679867A>G GRCh38
NC_000012.11:g.53073651A>G , CM000674.1:g.53073651A>G GRCh37
NC_000012.10:g.51359918A>G NCBI36
NG_008364.1:g.5541T>C
NG_008364.2:g.5541T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.482T>C MANE Select ENSP00000252244.3:p.Leu161Pro
NM_006121.3:c.482T>C NP_006112.3:p.Leu161Pro
NM_006121.4:c.482T>C MANE Select NP_006112.3:p.Leu161Pro
Search 100 bp 5'
Search 100 bp 3'