Canonical Allele Identifier: CA384974914

Gene: KRT1

Linked Data

• ClinVar Variation Id: 997963
• ClinVar RCV Id: RCV001293646
• dbSNP Id: rs59429455
• MyVariant Identifiers: chr12:g.53073569G>C (hg19) ; chr12:g.52679785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52679785G>C , CM000674.2:g.52679785G>C	GRCh38
NC_000012.11:g.53073569G>C , CM000674.1:g.53073569G>C	GRCh37
NC_000012.10:g.51359836G>C	NCBI36
NG_008364.1:g.5623C>G
NG_008364.2:g.5623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.564C>G MANE Select	ENSP00000252244.3:p.Asn188Lys
NM_006121.3:c.564C>G	NP_006112.3:p.Asn188Lys
NM_006121.4:c.564C>G MANE Select	NP_006112.3:p.Asn188Lys