Canonical Allele Identifier: CA384962357
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53070116A>G (hg19) chr12:g.52676332A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52676332A>G , CM000674.2:g.52676332A>G GRCh38
NC_000012.11:g.53070116A>G , CM000674.1:g.53070116A>G GRCh37
NC_000012.10:g.51356383A>G NCBI36
NG_008364.1:g.9076T>C
NG_008364.2:g.9076T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252244.3:c.1418T>C MANE Select ENSP00000252244.3:p.Leu473Pro
ENST00000548765.1:n.492T>C
NM_006121.3:c.1418T>C NP_006112.3:p.Leu473Pro
NM_006121.4:c.1418T>C MANE Select NP_006112.3:p.Leu473Pro
Search 100 bp 5'
Search 100 bp 3'