Canonical Allele Identifier: CA359519787

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37002662-G-A
• MyVariant Identifiers: chr5:g.37002764G>A (hg19) ; chr5:g.37002662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37002662G>A , CM000667.2:g.37002662G>A	GRCh38
NC_000005.9:g.37002764G>A , CM000667.1:g.37002764G>A	GRCh37
NC_000005.8:g.37038521G>A	NCBI36
NG_006987.1:g.130780G>A
NG_006987.2:g.130780G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3665G>A MANE Select	ENSP00000282516.8:p.Gly1222Asp
ENST00000652901.1:c.3665G>A	ENSP00000499536.1:p.Gly1222Asp
ENST00000282516.12:c.3665G>A	ENSP00000282516.8:p.Gly1222Asp
ENST00000448238.2:c.3665G>A	ENSP00000406266.2:p.Gly1222Asp
ENST00000621733.1:c.1-61916G>A	ENSP00000480694.1:n.1-61916G>A
NM_015384.4:c.3665G>A	NP_056199.2:p.Gly1222Asp
NM_133433.3:c.3665G>A	NP_597677.2:p.Gly1222Asp
XM_005248280.2:c.3665G>A	XP_005248337.1:p.Gly1222Asp
XM_005248282.3:c.2921G>A	XP_005248339.2:p.Gly974Asp
XM_006714467.2:c.3665G>A	XP_006714530.1:p.Gly1222Asp
XM_006714468.1:c.3467G>A	XP_006714531.1:p.Gly1156Asp
XM_011514014.1:c.3284G>A	XP_011512316.1:p.Gly1095Asp
XM_011514015.1:c.3665G>A	XP_011512317.1:p.Gly1222Asp
XM_005248280.3:c.3665G>A	XP_005248337.1:p.Gly1222Asp
XM_005248282.5:c.3005G>A	XP_005248339.3:p.Gly1002Asp
XM_006714468.2:c.3467G>A	XP_006714531.1:p.Gly1156Asp
XM_017009329.1:c.3665G>A	XP_016864818.1:p.Gly1222Asp
XM_017009330.2:c.2048G>A	XP_016864819.1:p.Gly683Asp
XM_017009331.1:c.2039G>A	XP_016864820.1:p.Gly680Asp
NM_133433.4:c.3665G>A MANE Select	NP_597677.2:p.Gly1222Asp
NM_015384.5:c.3665G>A	NP_056199.2:p.Gly1222Asp