Canonical Allele Identifier: CA384997132

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298551A>G (hg19) ; chr12:g.52904767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904767A>G , CM000674.2:g.52904767A>G	GRCh38
NC_000012.11:g.53298551A>G , CM000674.1:g.53298551A>G	GRCh37
NC_000012.10:g.51584818A>G	NCBI36
NG_008402.1:g.5318T>C
NG_008402.2:g.50100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.215T>C MANE Select	ENSP00000509398.1:p.Leu72Pro
ENST00000293308.11:c.215T>C	ENSP00000293308.6:p.Leu72Pro
ENST00000546542.1:c.449T>C	ENSP00000450228.1:p.Leu150Pro
ENST00000546583.5:n.286T>C
ENST00000546826.5:c.215T>C	ENSP00000447881.1:p.Leu72Pro
ENST00000546897.5:c.215T>C	ENSP00000447402.1:p.Leu72Pro
ENST00000548998.5:c.335T>C	ENSP00000447040.1:p.Leu112Pro
ENST00000550170.5:n.278T>C
ENST00000552150.5:c.299T>C	ENSP00000449404.1:p.Leu100Pro
ENST00000552551.5:c.215T>C	ENSP00000447566.1:p.Leu72Pro
NM_001256282.1:c.299T>C	NP_001243211.1:p.Leu100Pro
NM_001256293.1:c.215T>C	NP_001243222.1:p.Leu72Pro
NM_002273.3:c.215T>C	NP_002264.1:p.Leu72Pro
NR_045962.1:n.672T>C
NM_001256282.2:c.299T>C	NP_001243211.1:p.Leu100Pro
NM_001256293.2:c.215T>C	NP_001243222.1:p.Leu72Pro
NM_002273.4:c.215T>C MANE Select	NP_002264.1:p.Leu72Pro
NR_045962.2:n.666T>C