Canonical Allele Identifier: CA6586052

Gene: KRT1

Linked Data

• dbSNP Id: rs752065084
• ExAC: 12:53069196 G / A
• gnomAD v2: 12-53069196-G-A
• gnomAD v3: 12-52675412-G-A
• gnomAD v4: 12-52675412-G-A
• MyVariant Identifiers: chr12:g.53069196G>A (hg19) ; chr12:g.52675412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675412G>A , CM000674.2:g.52675412G>A	GRCh38
NC_000012.11:g.53069196G>A , CM000674.1:g.53069196G>A	GRCh37
NC_000012.10:g.51355463G>A	NCBI36
NG_008364.1:g.9996C>T
NG_008364.2:g.9996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1716C>T MANE Select	ENSP00000252244.3:p.Gly572=
NM_006121.3:c.1716C>T	NP_006112.3:p.Gly572=
NM_006121.4:c.1716C>T MANE Select	NP_006112.3:p.Gly572=