Canonical Allele Identifier: CA117057904

Gene: NIPBL

Linked Data

• dbSNP Id: rs930335017
• gnomAD v2: 5-37002766-G-A
• gnomAD v3: 5-37002664-G-A
• gnomAD v4: 5-37002664-G-A
• MyVariant Identifiers: chr5:g.37002766G>A (hg19) ; chr5:g.37002664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37002664G>A , CM000667.2:g.37002664G>A	GRCh38
NC_000005.9:g.37002766G>A , CM000667.1:g.37002766G>A	GRCh37
NC_000005.8:g.37038523G>A	NCBI36
NG_006987.1:g.130782G>A
NG_006987.2:g.130782G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3667G>A MANE Select	ENSP00000282516.8:p.Asp1223Asn
ENST00000652901.1:c.3667G>A	ENSP00000499536.1:p.Asp1223Asn
ENST00000282516.12:c.3667G>A	ENSP00000282516.8:p.Asp1223Asn
ENST00000448238.2:c.3667G>A	ENSP00000406266.2:p.Asp1223Asn
ENST00000621733.1:c.1-61914G>A	ENSP00000480694.1:n.1-61914G>A
NM_015384.4:c.3667G>A	NP_056199.2:p.Asp1223Asn
NM_133433.3:c.3667G>A	NP_597677.2:p.Asp1223Asn
XM_005248280.2:c.3667G>A	XP_005248337.1:p.Asp1223Asn
XM_005248282.3:c.2923G>A	XP_005248339.2:p.Asp975Asn
XM_006714467.2:c.3667G>A	XP_006714530.1:p.Asp1223Asn
XM_006714468.1:c.3469G>A	XP_006714531.1:p.Asp1157Asn
XM_011514014.1:c.3286G>A	XP_011512316.1:p.Asp1096Asn
XM_011514015.1:c.3667G>A	XP_011512317.1:p.Asp1223Asn
XM_005248280.3:c.3667G>A	XP_005248337.1:p.Asp1223Asn
XM_005248282.5:c.3007G>A	XP_005248339.3:p.Asp1003Asn
XM_006714468.2:c.3469G>A	XP_006714531.1:p.Asp1157Asn
XM_017009329.1:c.3667G>A	XP_016864818.1:p.Asp1223Asn
XM_017009330.2:c.2050G>A	XP_016864819.1:p.Asp684Asn
XM_017009331.1:c.2041G>A	XP_016864820.1:p.Asp681Asn
NM_133433.4:c.3667G>A MANE Select	NP_597677.2:p.Asp1223Asn
NM_015384.5:c.3667G>A	NP_056199.2:p.Asp1223Asn