Canonical Allele Identifier: CA384959717

Gene: KRT1

Linked Data

• MyVariant Identifiers: chr12:g.53069239C>T (hg19) ; chr12:g.52675455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675455C>T , CM000674.2:g.52675455C>T	GRCh38
NC_000012.11:g.53069239C>T , CM000674.1:g.53069239C>T	GRCh37
NC_000012.10:g.51355506C>T	NCBI36
NG_008364.1:g.9953G>A
NG_008364.2:g.9953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1673G>A MANE Select	ENSP00000252244.3:p.Ser558Asn
NM_006121.3:c.1673G>A	NP_006112.3:p.Ser558Asn
NM_006121.4:c.1673G>A MANE Select	NP_006112.3:p.Ser558Asn