Canonical Allele Identifier: CA3237304

Gene: NIPBL

Linked Data

• dbSNP Id: rs775502170
• ExAC: 5:37063956 G / A
• gnomAD v2: 5-37063956-G-A
• MyVariant Identifiers: chr5:g.37063956G>A (hg19) ; chr5:g.37063854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063854G>A , CM000667.2:g.37063854G>A	GRCh38
NC_000005.9:g.37063956G>A , CM000667.1:g.37063956G>A	GRCh37
NC_000005.8:g.37099713G>A	NCBI36
NG_006987.1:g.191972G>A
NG_006987.2:g.191972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7925G>A MANE Select	ENSP00000282516.8:p.Ser2642Asn
ENST00000652901.1:c.7778G>A	ENSP00000499536.1:p.Ser2593Asn
ENST00000282516.12:c.7925G>A	ENSP00000282516.8:p.Ser2642Asn
ENST00000448238.2:c.7925G>A	ENSP00000406266.2:p.Ser2642Asn
ENST00000513819.1:c.328G>A	ENSP00000421504.1:p.Ala110Thr
ENST00000514335.1:n.1807G>A
ENST00000621733.1:c.1-724G>A	ENSP00000480694.1:n.1-724G>A
NM_015384.4:c.7925G>A	NP_056199.2:p.Ser2642Asn
NM_133433.3:c.7925G>A	NP_597677.2:p.Ser2642Asn
XM_005248280.2:c.7925G>A	XP_005248337.1:p.Ser2642Asn
XM_005248282.3:c.7181G>A	XP_005248339.2:p.Ser2394Asn
XM_006714467.2:c.7778G>A	XP_006714530.1:p.Ser2593Asn
XM_006714468.1:c.7727G>A	XP_006714531.1:p.Ser2576Asn
XM_011514014.1:c.7544G>A	XP_011512316.1:p.Ser2515Asn
XM_005248280.3:c.7925G>A	XP_005248337.1:p.Ser2642Asn
XM_005248282.5:c.7265G>A	XP_005248339.3:p.Ser2422Asn
XM_006714468.2:c.7727G>A	XP_006714531.1:p.Ser2576Asn
XM_017009329.1:c.7778G>A	XP_016864818.1:p.Ser2593Asn
XM_017009330.2:c.6308G>A	XP_016864819.1:p.Ser2103Asn
XM_017009331.1:c.6299G>A	XP_016864820.1:p.Ser2100Asn
NM_133433.4:c.7925G>A MANE Select	NP_597677.2:p.Ser2642Asn
NM_015384.5:c.7925G>A	NP_056199.2:p.Ser2642Asn