Canonical Allele Identifier: CA126049

Gene: KRT1

Linked Data

• ClinVar Variation Id: 15914
• ClinVar RCV Id: RCV000017265 ; RCV000057092 ; RCV003390687
• dbSNP Id: rs59429455
• MyVariant Identifiers: chr12:g.53073569G>T (hg19) ; chr12:g.52679785G>T (hg38)
• PubMed: PMID:11559215 ; PMID:12406348

Genomic Alleles

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

Transcript Alleles

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