Canonical Allele Identifier: CA217445
Gene: KRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52679885A>C
GRCh37 chr12:g.53073669A>C
Revel Score:
ENST00000252244 (MANE Select) 0.952
ClinVar RCV:
RCV000057082
ClinVar Variation:
66642
dbSNP:
57959072
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52679885A>C , CM000674.2:g.52679885A>C GRCh38
NC_000012.11:g.53073669A>C , CM000674.1:g.53073669A>C GRCh37
NC_000012.10:g.51359936A>C NCBI36
NG_008364.1:g.5523T>G
NG_008364.2:g.5523T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.464T>G MANE Select ENSP00000252244.3:p.Val155Gly
NM_006121.3:c.464T>G NP_006112.3:p.Val155Gly
NM_006121.4:c.464T>G MANE Select NP_006112.3:p.Val155Gly
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