Canonical Allele Identifier: CA9255075

Gene: TECR

Linked Data

• ClinVar Variation Id: 376921
• ClinVar RCV Id: RCV000437833 ; RCV001335398 ; RCV002524710
• dbSNP Id: rs753690636
• ExAC: 19:14674710 G / T
• gnomAD v2: 19-14674710-G-T
• gnomAD v4: 19-14563898-G-T
• MyVariant Identifiers: chr19:g.14674710G>T (hg19) ; chr19:g.14563898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14563898G>T , CM000681.2:g.14563898G>T	GRCh38
NC_000019.9:g.14674710G>T , CM000681.1:g.14674710G>T	GRCh37
NC_000019.8:g.14535710G>T	NCBI36
NG_028336.1:g.39332G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000215567.10:c.262G>T MANE Select	ENSP00000215567.4:p.Val88Leu
ENST00000596073.6:c.376G>T	ENSP00000472697.2:p.Val126Leu
ENST00000642961.1:n.399G>T
ENST00000215567.9:c.262G>T	ENSP00000215567.4:p.Val88Leu
ENST00000593637.5:n.349G>T
ENST00000594545.5:c.-204G>T	ENSP00000469343.1:n.-204G>T
ENST00000594807.5:n.426G>T
ENST00000596073.5:c.-204G>T	ENSP00000472697.1:n.-204G>T
ENST00000596953.5:n.318G>T
ENST00000597607.5:n.302G>T
ENST00000598298.5:c.-204G>T	ENSP00000471341.1:n.-204G>T
ENST00000598333.5:c.227G>T	ENSP00000473129.1:p.Gly76Val
ENST00000598715.5:c.298G>T	ENSP00000469263.1:p.Val100Leu
ENST00000598987.5:c.*149G>T	ENSP00000472504.1:n.*149G>T
ENST00000600083.5:c.-204G>T	ENSP00000472114.1:n.-204G>T
ENST00000601461.1:n.346G>T
NM_138501.5:c.262G>T	NP_612510.1:p.Val88Leu
NR_038103.1:n.424G>T
NR_038104.1:n.457G>T
XM_006722945.1:c.361G>T	XP_006723008.1:p.Val121Leu
XM_006722947.1:c.307G>T	XP_006723010.1:p.Val103Leu
XM_011528442.1:c.325G>T	XP_011526744.1:p.Val109Leu
NM_001321170.1:c.307G>T	NP_001308099.1:p.Val103Leu
XM_006722945.2:c.361G>T	XP_006723008.1:p.Val121Leu
XM_011528442.2:c.325G>T	XP_011526744.1:p.Val109Leu
XM_024451790.1:c.361G>T	XP_024307558.1:p.Val121Leu
XM_024451791.1:c.361G>T	XP_024307559.1:p.Val121Leu
XM_024451792.1:c.325G>T	XP_024307560.1:p.Val109Leu
XM_024451793.1:c.325G>T	XP_024307561.1:p.Val109Leu
XM_024451794.1:c.307G>T	XP_024307562.1:p.Val103Leu
XM_024451795.1:c.307G>T	XP_024307563.1:p.Val103Leu
XM_024451796.1:c.262G>T	XP_024307564.1:p.Val88Leu
XM_024451797.1:c.262G>T	XP_024307565.1:p.Val88Leu
XM_024451798.1:c.-204G>T	XP_024307566.1:n.-204G>T
XM_024451799.1:c.-204G>T	XP_024307567.1:n.-204G>T
XM_024451800.1:c.-204G>T	XP_024307568.1:n.-204G>T
NM_138501.6:c.262G>T MANE Select	NP_612510.1:p.Val88Leu