Canonical Allele Identifier: CA384958728

Gene: KRT1

Linked Data

• MyVariant Identifiers: chr12:g.53069162T>A (hg19) ; chr12:g.52675378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675378T>A , CM000674.2:g.52675378T>A	GRCh38
NC_000012.11:g.53069162T>A , CM000674.1:g.53069162T>A	GRCh37
NC_000012.10:g.51355429T>A	NCBI36
NG_008364.1:g.10030A>T
NG_008364.2:g.10030A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1750A>T MANE Select	ENSP00000252244.3:p.Ser584Cys
NM_006121.3:c.1750A>T	NP_006112.3:p.Ser584Cys
NM_006121.4:c.1750A>T MANE Select	NP_006112.3:p.Ser584Cys