Canonical Allele Identifier: CA259941

Gene: DNAJB6

Linked Data

• ClinVar Variation Id: 30905
• ClinVar RCV Id: RCV000023892 ; RCV000594360
• dbSNP Id: rs387907047
• MyVariant Identifiers: chr7:g.157160118C>G (hg19) ; chr7:g.157367424C>G (hg38)
• PubMed: PMID:22334415 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.157367424C>G , CM000669.2:g.157367424C>G	GRCh38
NC_000007.13:g.157160118C>G , CM000669.1:g.157160118C>G	GRCh37
NC_000007.12:g.156852879C>G	NCBI36
NG_032573.1:g.35409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262177.9:c.287C>G MANE Select	ENSP00000262177.4:p.Pro96Arg
ENST00000262177.8:c.287C>G	ENSP00000262177.4:p.Pro96Arg
ENST00000412557.5:c.287C>G	ENSP00000403407.1:p.Pro96Arg
ENST00000417758.5:c.287C>G	ENSP00000400665.1:p.Pro96Arg
ENST00000429029.6:c.287C>G	ENSP00000397556.2:p.Pro96Arg
ENST00000441291.5:c.287C>G	ENSP00000415201.1:p.Pro96Arg
ENST00000441561.5:c.287C>G	ENSP00000410643.1:p.Pro96Arg
ENST00000443280.5:c.287C>G	ENSP00000396267.1:p.Pro96Arg
ENST00000453383.5:c.287C>G	ENSP00000396240.1:p.Pro96Arg
ENST00000459889.5:c.287C>G	ENSP00000488263.1:p.Pro96Arg
ENST00000486083.6:n.454C>G
ENST00000488001.5:n.433C>G
ENST00000634080.1:c.287C>G	ENSP00000488740.1:p.Pro96Arg
NM_005494.2:c.287C>G	NP_005485.1:p.Pro96Arg
NM_058246.3:c.287C>G	NP_490647.1:p.Pro96Arg
XM_005249515.2:c.287C>G	XP_005249572.1:p.Pro96Arg
XM_005249516.2:c.287C>G	XP_005249573.1:p.Pro96Arg
XM_006715823.1:c.287C>G	XP_006715886.1:p.Pro96Arg
XM_011515704.1:c.287C>G	XP_011514006.1:p.Pro96Arg
NM_001363676.1:c.287C>G	NP_001350605.1:p.Pro96Arg
XM_005249515.3:c.287C>G	XP_005249572.1:p.Pro96Arg
XM_006715823.2:c.287C>G	XP_006715886.1:p.Pro96Arg
NM_058246.4:c.287C>G MANE Select	NP_490647.1:p.Pro96Arg
NM_005494.3:c.287C>G	NP_005485.1:p.Pro96Arg