Canonical Allele Identifier: CA6586171
Gene: KRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52676315T>C
GRCh37 chr12:g.53070099T>C
Revel Score:
ENST00000252244 (MANE Select) 0.856
gnomAD v2:
12:53070099 T / C
gnomAD v3:
12:52676315 T / C
gnomAD v4:
chr12-52676315-T-C
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
dbSNP:
61218439
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52676315T>C , CM000674.2:g.52676315T>C GRCh38
NC_000012.11:g.53070099T>C , CM000674.1:g.53070099T>C GRCh37
NC_000012.10:g.51356366T>C NCBI36
NG_008364.1:g.9093A>G
NG_008364.2:g.9093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1435A>G MANE Select ENSP00000252244.3:p.Ile479Val
ENST00000548765.1:n.509A>G
NM_006121.3:c.1435A>G NP_006112.3:p.Ile479Val
NM_006121.4:c.1435A>G MANE Select NP_006112.3:p.Ile479Val
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