Canonical Allele Identifier: CA359482949

Gene: NIPBL

Linked Data

• dbSNP Id: rs1183420755
• gnomAD v2: 5-37016244-T-A
• gnomAD v4: 5-37016142-T-A
• MyVariant Identifiers: chr5:g.37016244T>A (hg19) ; chr5:g.37016142T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016142T>A , CM000667.2:g.37016142T>A	GRCh38
NC_000005.9:g.37016244T>A , CM000667.1:g.37016244T>A	GRCh37
NC_000005.8:g.37052001T>A	NCBI36
NG_006987.1:g.144260T>A
NG_006987.2:g.144260T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4748T>A MANE Select	ENSP00000282516.8:p.Leu1583Gln
ENST00000652901.1:c.4748T>A	ENSP00000499536.1:p.Leu1583Gln
ENST00000282516.12:c.4748T>A	ENSP00000282516.8:p.Leu1583Gln
ENST00000448238.2:c.4748T>A	ENSP00000406266.2:p.Leu1583Gln
ENST00000621733.1:c.1-48436T>A	ENSP00000480694.1:n.1-48436T>A
NM_015384.4:c.4748T>A	NP_056199.2:p.Leu1583Gln
NM_133433.3:c.4748T>A	NP_597677.2:p.Leu1583Gln
XM_005248280.2:c.4748T>A	XP_005248337.1:p.Leu1583Gln
XM_005248282.3:c.4004T>A	XP_005248339.2:p.Leu1335Gln
XM_006714467.2:c.4748T>A	XP_006714530.1:p.Leu1583Gln
XM_006714468.1:c.4550T>A	XP_006714531.1:p.Leu1517Gln
XM_011514014.1:c.4367T>A	XP_011512316.1:p.Leu1456Gln
XM_011514015.1:c.4748T>A	XP_011512317.1:p.Leu1583Gln
XM_005248280.3:c.4748T>A	XP_005248337.1:p.Leu1583Gln
XM_005248282.5:c.4088T>A	XP_005248339.3:p.Leu1363Gln
XM_006714468.2:c.4550T>A	XP_006714531.1:p.Leu1517Gln
XM_017009329.1:c.4748T>A	XP_016864818.1:p.Leu1583Gln
XM_017009330.2:c.3131T>A	XP_016864819.1:p.Leu1044Gln
XM_017009331.1:c.3122T>A	XP_016864820.1:p.Leu1041Gln
NM_133433.4:c.4748T>A MANE Select	NP_597677.2:p.Leu1583Gln
NM_015384.5:c.4748T>A	NP_056199.2:p.Leu1583Gln