Canonical Allele Identifier: CA384997134

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298552G>C (hg19) ; chr12:g.52904768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904768G>C , CM000674.2:g.52904768G>C	GRCh38
NC_000012.11:g.53298552G>C , CM000674.1:g.53298552G>C	GRCh37
NC_000012.10:g.51584819G>C	NCBI36
NG_008402.1:g.5317C>G
NG_008402.2:g.50099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.214C>G MANE Select	ENSP00000509398.1:p.Leu72Val
ENST00000293308.11:c.214C>G	ENSP00000293308.6:p.Leu72Val
ENST00000546542.1:c.448C>G	ENSP00000450228.1:p.Leu150Val
ENST00000546583.5:n.285C>G
ENST00000546826.5:c.214C>G	ENSP00000447881.1:p.Leu72Val
ENST00000546897.5:c.214C>G	ENSP00000447402.1:p.Leu72Val
ENST00000548998.5:c.334C>G	ENSP00000447040.1:p.Leu112Val
ENST00000550170.5:n.277C>G
ENST00000552150.5:c.298C>G	ENSP00000449404.1:p.Leu100Val
ENST00000552551.5:c.214C>G	ENSP00000447566.1:p.Leu72Val
NM_001256282.1:c.298C>G	NP_001243211.1:p.Leu100Val
NM_001256293.1:c.214C>G	NP_001243222.1:p.Leu72Val
NM_002273.3:c.214C>G	NP_002264.1:p.Leu72Val
NR_045962.1:n.671C>G
NM_001256282.2:c.298C>G	NP_001243211.1:p.Leu100Val
NM_001256293.2:c.214C>G	NP_001243222.1:p.Leu72Val
NM_002273.4:c.214C>G MANE Select	NP_002264.1:p.Leu72Val
NR_045962.2:n.665C>G