Canonical Allele Identifier: CA359489582

Gene: NIPBL

Linked Data

• dbSNP Id: rs1373879488
• gnomAD v2: 5-37022214-C-G
• MyVariant Identifiers: chr5:g.37022214C>G (hg19) ; chr5:g.37022112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37022112C>G , CM000667.2:g.37022112C>G	GRCh38
NC_000005.9:g.37022214C>G , CM000667.1:g.37022214C>G	GRCh37
NC_000005.8:g.37057971C>G	NCBI36
NG_006987.1:g.150230C>G
NG_006987.2:g.150230C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5390C>G MANE Select	ENSP00000282516.8:p.Ser1797Cys
ENST00000652901.1:c.5390C>G	ENSP00000499536.1:p.Ser1797Cys
ENST00000282516.12:c.5390C>G	ENSP00000282516.8:p.Ser1797Cys
ENST00000448238.2:c.5390C>G	ENSP00000406266.2:p.Ser1797Cys
ENST00000621733.1:c.1-42466C>G	ENSP00000480694.1:n.1-42466C>G
NM_015384.4:c.5390C>G	NP_056199.2:p.Ser1797Cys
NM_133433.3:c.5390C>G	NP_597677.2:p.Ser1797Cys
XM_005248280.2:c.5390C>G	XP_005248337.1:p.Ser1797Cys
XM_005248282.3:c.4646C>G	XP_005248339.2:p.Ser1549Cys
XM_006714467.2:c.5390C>G	XP_006714530.1:p.Ser1797Cys
XM_006714468.1:c.5192C>G	XP_006714531.1:p.Ser1731Cys
XM_011514014.1:c.5009C>G	XP_011512316.1:p.Ser1670Cys
XM_011514015.1:c.5390C>G	XP_011512317.1:p.Ser1797Cys
XM_005248280.3:c.5390C>G	XP_005248337.1:p.Ser1797Cys
XM_005248282.5:c.4730C>G	XP_005248339.3:p.Ser1577Cys
XM_006714468.2:c.5192C>G	XP_006714531.1:p.Ser1731Cys
XM_017009329.1:c.5390C>G	XP_016864818.1:p.Ser1797Cys
XM_017009330.2:c.3773C>G	XP_016864819.1:p.Ser1258Cys
XM_017009331.1:c.3764C>G	XP_016864820.1:p.Ser1255Cys
NM_133433.4:c.5390C>G MANE Select	NP_597677.2:p.Ser1797Cys
NM_015384.5:c.5390C>G	NP_056199.2:p.Ser1797Cys