Canonical Allele Identifier: CA389105033

Gene: TEP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20373548C>G , CM000676.2:g.20373548C>G	GRCh38
NC_000014.8:g.20841707C>G , CM000676.1:g.20841707C>G	GRCh37
NC_000014.7:g.19911547C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262715.10:c.6640G>C MANE Select	ENSP00000262715.5:p.Val2214Leu
ENST00000262715.9:c.6640G>C	ENSP00000262715.5:p.Val2214Leu
ENST00000555008.5:c.4669G>C	ENSP00000450541.1:p.Val1557Leu
ENST00000555727.5:c.*2060G>C	ENSP00000451634.1:n.*2060G>C
ENST00000556488.5:c.1014G>C	ENSP00000451409.1:n.1014G>C
ENST00000556935.5:c.6316G>C	ENSP00000452574.1:p.Val2106Leu
ENST00000557314.5:c.2272G>C
NM_007110.4:c.6640G>C	NP_009041.2:p.Val2214Leu
XM_005268027.3:c.6640G>C	XP_005268084.1:p.Val2214Leu
XM_011537110.1:c.5071G>C	XP_011535412.1:p.Val1691Leu
XR_245720.2:n.7771G>C
XR_429328.2:n.7933G>C
NM_001319035.1:c.6316G>C	NP_001305964.1:p.Val2106Leu
XM_005268027.5:c.6640G>C	XP_005268084.1:p.Val2214Leu
XM_011537110.2:c.5071G>C	XP_011535412.1:p.Val1691Leu
XR_001750531.1:n.6828G>C
XR_245720.3:n.6666G>C
NM_007110.5:c.6640G>C MANE Select	NP_009041.2:p.Val2214Leu
NM_001319035.2:c.6316G>C	NP_001305964.1:p.Val2106Leu