Canonical Allele Identifier: CA9255009

Gene: TECR

Linked Data

• ClinVar Variation Id: 436972
• ClinVar RCV Id: RCV000499449
• dbSNP Id: rs145931907
• ExAC: 19:14674068 C / T
• gnomAD v2: 19-14674068-C-T
• gnomAD v3: 19-14563256-C-T
• gnomAD v4: 19-14563256-C-T
• MyVariant Identifiers: chr19:g.14674068C>T (hg19) ; chr19:g.14563256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14563256C>T , CM000681.2:g.14563256C>T	GRCh38
NC_000019.9:g.14674068C>T , CM000681.1:g.14674068C>T	GRCh37
NC_000019.8:g.14535068C>T	NCBI36
NG_028336.1:g.38690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215567.10:c.117C>T MANE Select	ENSP00000215567.4:p.Thr39=
ENST00000596073.6:c.231C>T	ENSP00000472697.2:p.Thr77=
ENST00000642961.1:n.254C>T
ENST00000215567.9:c.117C>T	ENSP00000215567.4:p.Thr39=
ENST00000593637.5:n.204C>T
ENST00000594545.5:c.-349C>T	ENSP00000469343.1:n.-349C>T
ENST00000594807.5:n.184C>T
ENST00000596073.5:c.-349C>T	ENSP00000472697.1:n.-349C>T
ENST00000596164.5:n.149C>T
ENST00000596953.5:n.173C>T
ENST00000597607.5:n.157C>T
ENST00000598298.5:c.-349C>T	ENSP00000471341.1:n.-349C>T
ENST00000598333.5:c.117C>T	ENSP00000473129.1:p.Thr39=
ENST00000598715.5:c.153C>T	ENSP00000469263.1:p.Thr51=
ENST00000598918.5:c.*4C>T	ENSP00000473033.1:n.*4C>T
ENST00000598987.5:c.*4C>T	ENSP00000472504.1:n.*4C>T
ENST00000600076.5:n.402C>T
ENST00000600083.5:c.-349C>T	ENSP00000472114.1:n.-349C>T
ENST00000601461.1:n.172C>T
ENST00000601652.5:n.281C>T
NM_138501.5:c.117C>T	NP_612510.1:p.Thr39=
NR_038103.1:n.279C>T
NR_038104.1:n.312C>T
XM_006722945.1:c.216C>T	XP_006723008.1:p.Thr72=
XM_006722947.1:c.162C>T	XP_006723010.1:p.Thr54=
XM_011528442.1:c.180C>T	XP_011526744.1:p.Thr60=
NM_001321170.1:c.162C>T	NP_001308099.1:p.Thr54=
XM_006722945.2:c.216C>T	XP_006723008.1:p.Thr72=
XM_011528442.2:c.180C>T	XP_011526744.1:p.Thr60=
XM_024451790.1:c.216C>T	XP_024307558.1:p.Thr72=
XM_024451791.1:c.216C>T	XP_024307559.1:p.Thr72=
XM_024451792.1:c.180C>T	XP_024307560.1:p.Thr60=
XM_024451793.1:c.180C>T	XP_024307561.1:p.Thr60=
XM_024451794.1:c.162C>T	XP_024307562.1:p.Thr54=
XM_024451795.1:c.162C>T	XP_024307563.1:p.Thr54=
XM_024451796.1:c.117C>T	XP_024307564.1:p.Thr39=
XM_024451797.1:c.117C>T	XP_024307565.1:p.Thr39=
XM_024451798.1:c.-349C>T	XP_024307566.1:n.-349C>T
XM_024451799.1:c.-349C>T	XP_024307567.1:n.-349C>T
XM_024451800.1:c.-349C>T	XP_024307568.1:n.-349C>T
NM_138501.6:c.117C>T MANE Select	NP_612510.1:p.Thr39=