Canonical Allele Identifier: CA2313644

Gene: DLEC1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38039461T>G , CM000665.2:g.38039461T>G	GRCh38
NC_000003.11:g.38080952T>G , CM000665.1:g.38080952T>G	GRCh37
NC_000003.10:g.38055956T>G	NCBI36
NG_023237.1:g.5257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308059.11:c.236T>G MANE Select	ENSP00000308597.6:p.Leu79Arg
ENST00000308059.10:c.236T>G	ENSP00000308597.6:p.Leu79Arg
ENST00000346219.7:c.236T>G	ENSP00000315914.5:p.Leu79Arg
ENST00000440294.6:n.257T>G
NM_007335.2:c.236T>G	NP_031361.2:p.Leu79Arg
NM_007337.2:c.236T>G	NP_031363.2:p.Leu79Arg
XM_005265630.2:c.236T>G	XP_005265687.1:p.Leu79Arg
XM_006713437.2:c.236T>G	XP_006713500.1:p.Leu79Arg
XM_006713438.2:c.236T>G	XP_006713501.1:p.Leu79Arg
XM_006713439.2:c.236T>G	XP_006713502.1:p.Leu79Arg
XM_006713440.2:c.236T>G	XP_006713503.1:p.Leu79Arg
XM_011534317.1:c.236T>G	XP_011532619.1:p.Leu79Arg
XM_011534318.1:c.236T>G	XP_011532620.1:p.Leu79Arg
XR_427301.2:n.857T>G
XR_427302.2:n.857T>G
XR_940527.1:n.857T>G
NM_001321153.1:c.236T>G	NP_001308082.1:p.Leu79Arg
NM_007335.3:c.236T>G	NP_031361.2:p.Leu79Arg
NM_007337.3:c.236T>G	NP_031363.2:p.Leu79Arg
XM_006713438.3:c.236T>G	XP_006713501.1:p.Leu79Arg
XM_006713439.3:c.236T>G	XP_006713502.1:p.Leu79Arg
XM_006713440.3:c.236T>G	XP_006713503.1:p.Leu79Arg
XM_011534317.2:c.236T>G	XP_011532619.1:p.Leu79Arg
XM_011534318.2:c.236T>G	XP_011532620.1:p.Leu79Arg
XR_427301.3:n.866T>G
XR_427302.3:n.867T>G
XR_940527.2:n.867T>G
NM_001321153.2:c.236T>G	NP_001308082.1:p.Leu79Arg
NM_007335.4:c.236T>G MANE Select	NP_031361.2:p.Leu79Arg
NM_007337.4:c.236T>G	NP_031363.2:p.Leu79Arg