Canonical Allele Identifier: CA259939

Gene: DNAJB6

Linked Data

• ClinVar Variation Id: 30904
• ClinVar RCV Id: RCV000023891
• dbSNP Id: rs387907046
• MyVariant Identifiers: chr7:g.157160108T>C (hg19) ; chr7:g.157367414T>C (hg38)
• PubMed: PMID:22334415 ; PMID:22366786

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.157367414T>C , CM000669.2:g.157367414T>C	GRCh38
NC_000007.13:g.157160108T>C , CM000669.1:g.157160108T>C	GRCh37
NC_000007.12:g.156852869T>C	NCBI36
NG_032573.1:g.35399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262177.9:c.277T>C MANE Select	ENSP00000262177.4:p.Phe93Leu
ENST00000262177.8:c.277T>C	ENSP00000262177.4:p.Phe93Leu
ENST00000412557.5:c.277T>C	ENSP00000403407.1:p.Phe93Leu
ENST00000417758.5:c.277T>C	ENSP00000400665.1:p.Phe93Leu
ENST00000429029.6:c.277T>C	ENSP00000397556.2:p.Phe93Leu
ENST00000441291.5:c.277T>C	ENSP00000415201.1:p.Phe93Leu
ENST00000441561.5:c.277T>C	ENSP00000410643.1:p.Phe93Leu
ENST00000443280.5:c.277T>C	ENSP00000396267.1:p.Phe93Leu
ENST00000453383.5:c.277T>C	ENSP00000396240.1:p.Phe93Leu
ENST00000459889.5:c.277T>C	ENSP00000488263.1:p.Phe93Leu
ENST00000486083.6:n.444T>C
ENST00000488001.5:n.423T>C
ENST00000634080.1:c.277T>C	ENSP00000488740.1:p.Phe93Leu
NM_005494.2:c.277T>C	NP_005485.1:p.Phe93Leu
NM_058246.3:c.277T>C	NP_490647.1:p.Phe93Leu
XM_005249515.2:c.277T>C	XP_005249572.1:p.Phe93Leu
XM_005249516.2:c.277T>C	XP_005249573.1:p.Phe93Leu
XM_006715823.1:c.277T>C	XP_006715886.1:p.Phe93Leu
XM_011515704.1:c.277T>C	XP_011514006.1:p.Phe93Leu
NM_001363676.1:c.277T>C	NP_001350605.1:p.Phe93Leu
XM_005249515.3:c.277T>C	XP_005249572.1:p.Phe93Leu
XM_006715823.2:c.277T>C	XP_006715886.1:p.Phe93Leu
NM_058246.4:c.277T>C MANE Select	NP_490647.1:p.Phe93Leu
NM_005494.3:c.277T>C	NP_005485.1:p.Phe93Leu