Canonical Allele Identifier: CA126045
Gene: KRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52680128T>A
GRCh37 chr12:g.53073912T>A
Revel Score:
ENST00000252244 (MANE Select) 0.568
ClinVar RCV:
RCV000017261
RCV000057080
ClinVar Variation:
15910
dbSNP:
57977969
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52680128T>A , CM000674.2:g.52680128T>A GRCh38
NC_000012.11:g.53073912T>A , CM000674.1:g.53073912T>A GRCh37
NC_000012.10:g.51360179T>A NCBI36
NG_008364.1:g.5280A>T
NG_008364.2:g.5280A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.221A>T MANE Select ENSP00000252244.3:p.Lys74Ile
NM_006121.3:c.221A>T NP_006112.3:p.Lys74Ile
NM_006121.4:c.221A>T MANE Select NP_006112.3:p.Lys74Ile
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