Canonical Allele Identifier: CA13324317

Gene: RNLS LIPJ

Linked Data

• ClinVar Variation Id: 1239848
• ClinVar RCV Id: RCV001637812
• dbSNP Id: rs2576178
• gnomAD v2: 10-90343398-A-G
• gnomAD v3: 10-88583641-A-G
• gnomAD v4: 10-88583641-A-G
• MyVariant Identifiers: chr10:g.90343398A>G (hg19) ; chr10:g.88583641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88583641A>G , CM000672.2:g.88583641A>G	GRCh38
NC_000010.10:g.90343398A>G , CM000672.1:g.90343398A>G	GRCh37
NC_000010.9:g.90333378A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000371947.7:c.-451T>C (RNLS)	ENSP00000361015.3:n.-451T>C
XM_005269948.1:c.-451T>C (RNLS)	XP_005270005.1:n.-451T>C
XM_005269950.2:c.-451T>C (RNLS)	XP_005270007.1:n.-451T>C
XM_006717635.1:c.-598A>G (LIPJ)	XP_006717698.1:n.-598A>G
XM_011539314.1:c.-1110A>G (LIPJ)	XP_011537616.1:n.-1110A>G
XM_011539317.1:c.-1110A>G (LIPJ)	XP_011537619.1:n.-1110A>G
XM_005269946.2:c.-451T>C (RNLS)	XP_005270003.1:n.-451T>C
XM_005269947.2:c.-451T>C (RNLS)	XP_005270004.1:n.-451T>C
XM_005269948.3:c.-451T>C (RNLS)	XP_005270005.1:n.-451T>C
XM_005269949.5:c.-451T>C (RNLS)	XP_005270006.1:n.-451T>C
XM_005269950.4:c.-451T>C (RNLS)	XP_005270007.1:n.-451T>C
XM_006717635.3:c.-598A>G (LIPJ)	XP_006717698.1:n.-598A>G
XM_011539314.3:c.-1110A>G (LIPJ)	XP_011537616.1:n.-1110A>G
XM_011539317.3:c.-1110A>G (LIPJ)	XP_011537619.1:n.-1110A>G
XM_011539924.3:c.-451T>C (RNLS)	XP_011538226.1:n.-451T>C
XM_011539927.3:c.-451T>C (RNLS)	XP_011538229.1:n.-451T>C
XM_017015740.2:c.-1110A>G (LIPJ)	XP_016871229.1:n.-1110A>G
XM_017016380.2:c.-451T>C (RNLS)	XP_016871869.1:n.-451T>C
XM_017016381.2:c.-451T>C (RNLS)	XP_016871870.1:n.-451T>C
XM_017016382.2:c.-451T>C (RNLS)	XP_016871871.1:n.-451T>C
XM_017016383.2:c.-451T>C (RNLS)	XP_016871872.1:n.-451T>C
XM_017016384.2:c.-451T>C (RNLS)	XP_016871873.1:n.-451T>C
XM_024448063.1:c.-451T>C (RNLS)	XP_024303831.1:n.-451T>C
XR_001747122.2:n.840T>C (RNLS)
NR_172141.1:n.735A>G (LIPJ)