Canonical Allele Identifier: CA10608831

Gene: CENPL DARS2

Linked Data

• ClinVar Variation Id: 293811
• ClinVar RCV Id: RCV000318314
• dbSNP Id: rs533128814
• gnomAD v2: 1-173793835-G-A
• gnomAD v3: 1-173824697-G-A
• gnomAD v4: 1-173824697-G-A
• MyVariant Identifiers: chr1:g.173793835G>A (hg19) ; chr1:g.173824697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173824697G>A , CM000663.2:g.173824697G>A	GRCh38
NC_000001.10:g.173793835G>A , CM000663.1:g.173793835G>A	GRCh37
NC_000001.9:g.172060458G>A	NCBI36
NG_016138.1:g.5039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682279.1:c.-587C>T (CENPL) MANE Select	ENSP00000507473.1:n.-587C>T
ENST00000647730.1:c.-533G>A (DARS2)	ENSP00000497781.1:n.-533G>A
ENST00000647788.1:c.-533G>A (DARS2)	ENSP00000497769.1:n.-533G>A
ENST00000648271.1:c.-533G>A (DARS2)	ENSP00000497795.1:n.-533G>A
ENST00000648807.1:c.-533G>A (DARS2)	ENSP00000497472.1:n.-533G>A
ENST00000648960.1:c.-533G>A (DARS2)	ENSP00000497091.1:n.-533G>A
ENST00000649067.1:c.-533G>A (DARS2)	ENSP00000497052.1:n.-533G>A
ENST00000649689.2:c.-533G>A (DARS2) MANE Select	ENSP00000497569.1:n.-533G>A
ENST00000361951.4:c.-533G>A (DARS2)	ENSP00000355086.4:n.-533G>A
ENST00000479159.1:n.24C>T (CENPL)
NM_018122.4:c.-533G>A (DARS2)	NP_060592.2:n.-533G>A
XM_006711427.2:c.-533G>A (DARS2)	XP_006711490.1:n.-533G>A
XM_011509711.1:c.-533G>A (DARS2)	XP_011508013.1:n.-533G>A
NM_001365212.1:c.-533G>A (DARS2)	NP_001352141.1:n.-533G>A
NM_001365213.1:c.-533G>A (DARS2)	NP_001352142.1:n.-533G>A
NM_018122.5:c.-533G>A (DARS2) MANE Select	NP_060592.2:n.-533G>A
NM_001365213.2:c.-533G>A (DARS2)	NP_001352142.1:n.-533G>A
NM_001127181.3:c.-661C>T (CENPL)	NP_001120653.1:n.-661C>T
NM_001171182.2:c.-779C>T (CENPL)	NP_001164653.1:n.-779C>T
NM_001387284.1:c.-778C>T (CENPL)	NP_001374213.1:n.-778C>T
NM_001387285.1:c.-779C>T (CENPL)	NP_001374214.1:n.-779C>T
NM_001387286.1:c.-237C>T (CENPL)	NP_001374215.1:n.-237C>T
NM_001387287.1:c.-587C>T (CENPL) MANE Select	NP_001374216.1:n.-587C>T
NM_001387288.1:c.-704C>T (CENPL)	NP_001374217.1:n.-704C>T
NM_001387289.1:c.-776C>T (CENPL)	NP_001374218.1:n.-776C>T
NM_001387290.1:c.-237C>T (CENPL)	NP_001374219.1:n.-237C>T
NM_001387291.1:c.-587C>T (CENPL)	NP_001374220.1:n.-587C>T
NM_001387292.1:c.-587C>T (CENPL)	NP_001374221.1:n.-587C>T
NM_001387293.1:c.-661C>T (CENPL)	NP_001374222.1:n.-661C>T
NM_033319.4:c.-661C>T (CENPL)	NP_201576.1:n.-661C>T
NR_170626.1:n.187C>T (CENPL)
NR_170627.1:n.187C>T (CENPL)
NR_170628.1:n.187C>T (CENPL)
NR_170629.1:n.187C>T (CENPL)