Canonical Allele Identifier: CA359511517

Gene: NIPBL

Linked Data

• dbSNP Id: rs1408015596
• gnomAD v4: 5-37052466-C-G
• MyVariant Identifiers: chr5:g.37052568C>G (hg19) ; chr5:g.37052466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052466C>G , CM000667.2:g.37052466C>G	GRCh38
NC_000005.9:g.37052568C>G , CM000667.1:g.37052568C>G	GRCh37
NC_000005.8:g.37088325C>G	NCBI36
NG_006987.1:g.180584C>G
NG_006987.2:g.180584C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7163C>G MANE Select	ENSP00000282516.8:p.Ser2388Cys
ENST00000652901.1:c.7163C>G	ENSP00000499536.1:p.Ser2388Cys
ENST00000282516.12:c.7163C>G	ENSP00000282516.8:p.Ser2388Cys
ENST00000448238.2:c.7163C>G	ENSP00000406266.2:p.Ser2388Cys
ENST00000514335.1:n.1045C>G
ENST00000621733.1:c.1-12112C>G	ENSP00000480694.1:n.1-12112C>G
NM_015384.4:c.7163C>G	NP_056199.2:p.Ser2388Cys
NM_133433.3:c.7163C>G	NP_597677.2:p.Ser2388Cys
XM_005248280.2:c.7163C>G	XP_005248337.1:p.Ser2388Cys
XM_005248282.3:c.6419C>G	XP_005248339.2:p.Ser2140Cys
XM_006714467.2:c.7163C>G	XP_006714530.1:p.Ser2388Cys
XM_006714468.1:c.6965C>G	XP_006714531.1:p.Ser2322Cys
XM_011514014.1:c.6782C>G	XP_011512316.1:p.Ser2261Cys
XM_011514015.1:c.7163C>G	XP_011512317.1:p.Ser2388Cys
XM_005248280.3:c.7163C>G	XP_005248337.1:p.Ser2388Cys
XM_005248282.5:c.6503C>G	XP_005248339.3:p.Ser2168Cys
XM_006714468.2:c.6965C>G	XP_006714531.1:p.Ser2322Cys
XM_017009329.1:c.7163C>G	XP_016864818.1:p.Ser2388Cys
XM_017009330.2:c.5546C>G	XP_016864819.1:p.Ser1849Cys
XM_017009331.1:c.5537C>G	XP_016864820.1:p.Ser1846Cys
NM_133433.4:c.7163C>G MANE Select	NP_597677.2:p.Ser2388Cys
NM_015384.5:c.7163C>G	NP_056199.2:p.Ser2388Cys