Canonical Allele Identifier: CA384958755

Gene: KRT1

Linked Data

• dbSNP Id: rs1275469442
• gnomAD v2: 12-53069164-C-T
• gnomAD v4: 12-52675380-C-T
• MyVariant Identifiers: chr12:g.53069164C>T (hg19) ; chr12:g.52675380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675380C>T , CM000674.2:g.52675380C>T	GRCh38
NC_000012.11:g.53069164C>T , CM000674.1:g.53069164C>T	GRCh37
NC_000012.10:g.51355431C>T	NCBI36
NG_008364.1:g.10028G>A
NG_008364.2:g.10028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1748G>A MANE Select	ENSP00000252244.3:p.Ser583Asn
NM_006121.3:c.1748G>A	NP_006112.3:p.Ser583Asn
NM_006121.4:c.1748G>A MANE Select	NP_006112.3:p.Ser583Asn