Canonical Allele Identifier: CA384958622

Gene: KRT1

Linked Data

• MyVariant Identifiers: chr12:g.53069153A>G (hg19) ; chr12:g.52675369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675369A>G , CM000674.2:g.52675369A>G	GRCh38
NC_000012.11:g.53069153A>G , CM000674.1:g.53069153A>G	GRCh37
NC_000012.10:g.51355420A>G	NCBI36
NG_008364.1:g.10039T>C
NG_008364.2:g.10039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1759T>C MANE Select	ENSP00000252244.3:p.Tyr587His
NM_006121.3:c.1759T>C	NP_006112.3:p.Tyr587His
NM_006121.4:c.1759T>C MANE Select	NP_006112.3:p.Tyr587His