Canonical Allele Identifier: CA359486246

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020565C>G (hg19) ; chr5:g.37020463C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020463C>G , CM000667.2:g.37020463C>G	GRCh38
NC_000005.9:g.37020565C>G , CM000667.1:g.37020565C>G	GRCh37
NC_000005.8:g.37056322C>G	NCBI36
NG_006987.1:g.148581C>G
NG_006987.2:g.148581C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5015C>G MANE Select	ENSP00000282516.8:p.Ser1672Cys
ENST00000652901.1:c.5015C>G	ENSP00000499536.1:p.Ser1672Cys
ENST00000282516.12:c.5015C>G	ENSP00000282516.8:p.Ser1672Cys
ENST00000448238.2:c.5015C>G	ENSP00000406266.2:p.Ser1672Cys
ENST00000621733.1:c.1-44115C>G	ENSP00000480694.1:n.1-44115C>G
NM_015384.4:c.5015C>G	NP_056199.2:p.Ser1672Cys
NM_133433.3:c.5015C>G	NP_597677.2:p.Ser1672Cys
XM_005248280.2:c.5015C>G	XP_005248337.1:p.Ser1672Cys
XM_005248282.3:c.4271C>G	XP_005248339.2:p.Ser1424Cys
XM_006714467.2:c.5015C>G	XP_006714530.1:p.Ser1672Cys
XM_006714468.1:c.4817C>G	XP_006714531.1:p.Ser1606Cys
XM_011514014.1:c.4634C>G	XP_011512316.1:p.Ser1545Cys
XM_011514015.1:c.5015C>G	XP_011512317.1:p.Ser1672Cys
XM_005248280.3:c.5015C>G	XP_005248337.1:p.Ser1672Cys
XM_005248282.5:c.4355C>G	XP_005248339.3:p.Ser1452Cys
XM_006714468.2:c.4817C>G	XP_006714531.1:p.Ser1606Cys
XM_017009329.1:c.5015C>G	XP_016864818.1:p.Ser1672Cys
XM_017009330.2:c.3398C>G	XP_016864819.1:p.Ser1133Cys
XM_017009331.1:c.3389C>G	XP_016864820.1:p.Ser1130Cys
NM_133433.4:c.5015C>G MANE Select	NP_597677.2:p.Ser1672Cys
NM_015384.5:c.5015C>G	NP_056199.2:p.Ser1672Cys