Canonical Allele Identifier: CA10588648
Gene: KRT16 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41612306A>G
GRCh37 chr17:g.39768558A>G
Revel Score:
ENST00000301653 (MANE Select) 0.987
ClinVar RCV:
RCV000255090
ClinVar Variation:
265486
dbSNP:
28928895
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612306A>G , CM000679.2:g.41612306A>G GRCh38
NC_000017.10:g.39768558A>G , CM000679.1:g.39768558A>G GRCh37
NC_000017.9:g.37022084A>G NCBI36
NG_008301.1:g.5522T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.383T>C MANE Select ENSP00000301653.3:p.Leu128Pro
ENST00000301653.8:c.383T>C ENSP00000301653.3:p.Leu128Pro
ENST00000588319.1:n.460T>C
ENST00000593067.1:c.-312-20T>C ENSP00000467124.1:n.-312-20T>C
NM_005557.3:c.383T>C NP_005548.2:p.Leu128Pro
NM_005557.4:c.383T>C MANE Select NP_005548.2:p.Leu128Pro
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