Canonical Allele Identifier: CA384960146

Gene: KRT1

Linked Data

• MyVariant Identifiers: chr12:g.53069267G>T (hg19) ; chr12:g.52675483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675483G>T , CM000674.2:g.52675483G>T	GRCh38
NC_000012.11:g.53069267G>T , CM000674.1:g.53069267G>T	GRCh37
NC_000012.10:g.51355534G>T	NCBI36
NG_008364.1:g.9925C>A
NG_008364.2:g.9925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1645C>A MANE Select	ENSP00000252244.3:p.Arg549Ser
NM_006121.3:c.1645C>A	NP_006112.3:p.Arg549Ser
NM_006121.4:c.1645C>A MANE Select	NP_006112.3:p.Arg549Ser