Canonical Allele Identifier: CA384997038

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298507C>G (hg19) ; chr12:g.52904723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904723C>G , CM000674.2:g.52904723C>G	GRCh38
NC_000012.11:g.53298507C>G , CM000674.1:g.53298507C>G	GRCh37
NC_000012.10:g.51584774C>G	NCBI36
NG_008402.1:g.5362G>C
NG_008402.2:g.50144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.259G>C MANE Select	ENSP00000509398.1:p.Val87Leu
ENST00000293308.11:c.259G>C	ENSP00000293308.6:p.Val87Leu
ENST00000546542.1:c.493G>C	ENSP00000450228.1:p.Val165Leu
ENST00000546583.5:n.330G>C
ENST00000546826.5:c.259G>C	ENSP00000447881.1:p.Val87Leu
ENST00000546897.5:c.259G>C	ENSP00000447402.1:p.Val87Leu
ENST00000548998.5:c.379G>C	ENSP00000447040.1:p.Val127Leu
ENST00000550170.5:n.322G>C
ENST00000552150.5:c.343G>C	ENSP00000449404.1:p.Val115Leu
ENST00000552551.5:c.259G>C	ENSP00000447566.1:p.Val87Leu
NM_001256282.1:c.343G>C	NP_001243211.1:p.Val115Leu
NM_001256293.1:c.259G>C	NP_001243222.1:p.Val87Leu
NM_002273.3:c.259G>C	NP_002264.1:p.Val87Leu
NR_045962.1:n.716G>C
NM_001256282.2:c.343G>C	NP_001243211.1:p.Val115Leu
NM_001256293.2:c.259G>C	NP_001243222.1:p.Val87Leu
NM_002273.4:c.259G>C MANE Select	NP_002264.1:p.Val87Leu
NR_045962.2:n.710G>C