Canonical Allele Identifier: CA9254931

Gene: TECR DNAJB1

Linked Data

• ClinVar Variation Id: 436970
• ClinVar RCV Id: RCV000501054
• dbSNP Id: rs776469956
• ExAC: 19:14640533 G / A
• gnomAD v2: 19-14640533-G-A
• gnomAD v3: 19-14529721-G-A
• gnomAD v4: 19-14529721-G-A
• MyVariant Identifiers: chr19:g.14640533G>A (hg19) ; chr19:g.14529721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14529721G>A , CM000681.2:g.14529721G>A	GRCh38
NC_000019.9:g.14640533G>A , CM000681.1:g.14640533G>A	GRCh37
NC_000019.8:g.14501533G>A	NCBI36
NG_028336.1:g.5155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215567.10:c.15+10G>A (TECR) MANE Select	ENSP00000215567.4:n.15+10G>A
ENST00000594099.6:c.-624C>T (DNAJB1)	ENSP00000470460.2:n.-624C>T
ENST00000642961.1:n.120+10G>A (TECR)
ENST00000676982.1:c.-213-1911C>T (DNAJB1)	ENSP00000504186.1:n.-213-1911C>T
ENST00000677113.1:n.492-1911C>T (DNAJB1)
ENST00000679223.1:c.-174-1911C>T (DNAJB1)	ENSP00000504527.1:n.-174-1911C>T
ENST00000215567.9:c.15+10G>A (TECR)	ENSP00000215567.4:n.15+10G>A
ENST00000593637.5:n.102+10G>A (TECR)
ENST00000594099.5:c.-624C>T (DNAJB1)	ENSP00000470460.1:n.-624C>T
ENST00000594807.5:n.82+10G>A (TECR)
ENST00000596073.5:c.-483+10G>A (TECR)	ENSP00000472697.1:n.-483+10G>A
ENST00000596164.5:n.15+10G>A (TECR)
ENST00000596953.5:n.71+10G>A (TECR)
ENST00000597607.5:n.55+10G>A (TECR)
ENST00000598298.5:c.-595+10G>A (TECR)	ENSP00000471341.1:n.-595+10G>A
ENST00000598333.5:c.15+10G>A (TECR)	ENSP00000473129.1:n.15+10G>A
ENST00000598987.5:c.15+10G>A (TECR)	ENSP00000472504.1:n.15+10G>A
ENST00000599646.1:n.92G>A (TECR)
ENST00000600076.5:n.300+12337G>A (TECR)
ENST00000600083.5:c.-516+10G>A (TECR)	ENSP00000472114.1:n.-516+10G>A
ENST00000601652.5:n.114+10G>A (TECR)
NM_138501.5:c.15+10G>A (TECR)	NP_612510.1:n.15+10G>A
NR_038103.1:n.145+10G>A (TECR)
NR_038104.1:n.145+10G>A (TECR)
XM_006722945.1:c.15+10G>A (TECR)	XP_006723008.1:n.15+10G>A
XM_006722947.1:c.-8+10G>A (TECR)	XP_006723010.1:n.-8+10G>A
XM_011528442.1:c.78+1869G>A (TECR)	XP_011526744.1:n.78+1869G>A
NM_001321170.1:c.-8+10G>A (TECR)	NP_001308099.1:n.-8+10G>A
XM_006722734.4:c.-624C>T (DNAJB1)	XP_006722797.1:n.-624C>T
XM_006722945.2:c.15+10G>A (TECR)	XP_006723008.1:n.15+10G>A
XM_011528442.2:c.78+1869G>A (TECR)	XP_011526744.1:n.78+1869G>A
XM_024451790.1:c.15+10G>A (TECR)	XP_024307558.1:n.15+10G>A
XM_024451791.1:c.15+10G>A (TECR)	XP_024307559.1:n.15+10G>A
XM_024451792.1:c.78+1869G>A (TECR)	XP_024307560.1:n.78+1869G>A
XM_024451793.1:c.78+1869G>A (TECR)	XP_024307561.1:n.78+1869G>A
XM_024451794.1:c.-8+10G>A (TECR)	XP_024307562.1:n.-8+10G>A
XM_024451795.1:c.-8+10G>A (TECR)	XP_024307563.1:n.-8+10G>A
XM_024451796.1:c.15+10G>A (TECR)	XP_024307564.1:n.15+10G>A
XM_024451797.1:c.15+10G>A (TECR)	XP_024307565.1:n.15+10G>A
XM_024451799.1:c.-483+10G>A (TECR)	XP_024307567.1:n.-483+10G>A
NM_138501.6:c.15+10G>A (TECR) MANE Select	NP_612510.1:n.15+10G>A