Canonical Allele Identifier: CA359487554

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020767C>A (hg19) ; chr5:g.37020665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020665C>A , CM000667.2:g.37020665C>A	GRCh38
NC_000005.9:g.37020767C>A , CM000667.1:g.37020767C>A	GRCh37
NC_000005.8:g.37056524C>A	NCBI36
NG_006987.1:g.148783C>A
NG_006987.2:g.148783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5217C>A MANE Select	ENSP00000282516.8:p.Ser1739Arg
ENST00000652901.1:c.5217C>A	ENSP00000499536.1:p.Ser1739Arg
ENST00000282516.12:c.5217C>A	ENSP00000282516.8:p.Ser1739Arg
ENST00000448238.2:c.5217C>A	ENSP00000406266.2:p.Ser1739Arg
ENST00000621733.1:c.1-43913C>A	ENSP00000480694.1:n.1-43913C>A
NM_015384.4:c.5217C>A	NP_056199.2:p.Ser1739Arg
NM_133433.3:c.5217C>A	NP_597677.2:p.Ser1739Arg
XM_005248280.2:c.5217C>A	XP_005248337.1:p.Ser1739Arg
XM_005248282.3:c.4473C>A	XP_005248339.2:p.Ser1491Arg
XM_006714467.2:c.5217C>A	XP_006714530.1:p.Ser1739Arg
XM_006714468.1:c.5019C>A	XP_006714531.1:p.Ser1673Arg
XM_011514014.1:c.4836C>A	XP_011512316.1:p.Ser1612Arg
XM_011514015.1:c.5217C>A	XP_011512317.1:p.Ser1739Arg
XM_005248280.3:c.5217C>A	XP_005248337.1:p.Ser1739Arg
XM_005248282.5:c.4557C>A	XP_005248339.3:p.Ser1519Arg
XM_006714468.2:c.5019C>A	XP_006714531.1:p.Ser1673Arg
XM_017009329.1:c.5217C>A	XP_016864818.1:p.Ser1739Arg
XM_017009330.2:c.3600C>A	XP_016864819.1:p.Ser1200Arg
XM_017009331.1:c.3591C>A	XP_016864820.1:p.Ser1197Arg
NM_133433.4:c.5217C>A MANE Select	NP_597677.2:p.Ser1739Arg
NM_015384.5:c.5217C>A	NP_056199.2:p.Ser1739Arg