Canonical Allele Identifier: CA359504553

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37045636C>A (hg19) ; chr5:g.37045534C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045534C>A , CM000667.2:g.37045534C>A	GRCh38
NC_000005.9:g.37045636C>A , CM000667.1:g.37045636C>A	GRCh37
NC_000005.8:g.37081393C>A	NCBI36
NG_006987.1:g.173652C>A
NG_006987.2:g.173652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6435C>A MANE Select	ENSP00000282516.8:p.Phe2145Leu
ENST00000652901.1:c.6435C>A	ENSP00000499536.1:p.Phe2145Leu
ENST00000282516.12:c.6435C>A	ENSP00000282516.8:p.Phe2145Leu
ENST00000448238.2:c.6435C>A	ENSP00000406266.2:p.Phe2145Leu
ENST00000621733.1:c.1-19044C>A	ENSP00000480694.1:n.1-19044C>A
NM_015384.4:c.6435C>A	NP_056199.2:p.Phe2145Leu
NM_133433.3:c.6435C>A	NP_597677.2:p.Phe2145Leu
XM_005248280.2:c.6435C>A	XP_005248337.1:p.Phe2145Leu
XM_005248282.3:c.5691C>A	XP_005248339.2:p.Phe1897Leu
XM_006714467.2:c.6435C>A	XP_006714530.1:p.Phe2145Leu
XM_006714468.1:c.6237C>A	XP_006714531.1:p.Phe2079Leu
XM_011514014.1:c.6054C>A	XP_011512316.1:p.Phe2018Leu
XM_011514015.1:c.6435C>A	XP_011512317.1:p.Phe2145Leu
XM_005248280.3:c.6435C>A	XP_005248337.1:p.Phe2145Leu
XM_005248282.5:c.5775C>A	XP_005248339.3:p.Phe1925Leu
XM_006714468.2:c.6237C>A	XP_006714531.1:p.Phe2079Leu
XM_017009329.1:c.6435C>A	XP_016864818.1:p.Phe2145Leu
XM_017009330.2:c.4818C>A	XP_016864819.1:p.Phe1606Leu
XM_017009331.1:c.4809C>A	XP_016864820.1:p.Phe1603Leu
NM_133433.4:c.6435C>A MANE Select	NP_597677.2:p.Phe2145Leu
NM_015384.5:c.6435C>A	NP_056199.2:p.Phe2145Leu