Canonical Allele Identifier: CA391069445

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102465290G>C , CM000676.2:g.102465290G>C	GRCh38
NC_000014.8:g.102931627G>C , CM000676.1:g.102931627G>C	GRCh37
NC_000014.7:g.102001380G>C	NCBI36
NG_042851.1:g.107379G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.3789+1G>C MANE Select	NP_055659.2:n.3789+1G>C
ENST00000359520.12:c.3789+1G>C MANE Select	ENSP00000352510.7:n.3789+1G>C
NM_001172631.1:c.3790G>C	NP_001166102.1:p.Val1264Leu
NM_001172631.2:c.3790G>C	NP_001166102.1:p.Val1264Leu
NM_001172631.3:c.3790G>C	NP_001166102.1:p.Val1264Leu
NM_014844.3:c.3789+1G>C	NP_055659.2:n.3789+1G>C
NM_014844.4:c.3789+1G>C	NP_055659.2:n.3789+1G>C
ENST00000359520.11:c.3789+1G>C	ENSP00000352510.7:n.3789+1G>C
ENST00000558678.1:c.3790G>C	ENSP00000453671.1:p.Val1264Leu
XM_005268246.2:c.3456+1G>C	XP_005268303.1:n.3456+1G>C