Canonical Allele Identifier: CA3237202

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37058902G>C , CM000667.2:g.37058902G>C	GRCh38
NC_000005.9:g.37059004G>C , CM000667.1:g.37059004G>C	GRCh37
NC_000005.8:g.37094761G>C	NCBI36
NG_006987.1:g.187020G>C
NG_006987.2:g.187020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7422G>C MANE Select	ENSP00000282516.8:p.Lys2474Asn
ENST00000652901.1:c.7275G>C	ENSP00000499536.1:p.Lys2425Asn
ENST00000282516.12:c.7422G>C	ENSP00000282516.8:p.Lys2474Asn
ENST00000448238.2:c.7422G>C	ENSP00000406266.2:p.Lys2474Asn
ENST00000514335.1:n.1304G>C
ENST00000621733.1:c.1-5676G>C	ENSP00000480694.1:n.1-5676G>C
NM_015384.4:c.7422G>C	NP_056199.2:p.Lys2474Asn
NM_133433.3:c.7422G>C	NP_597677.2:p.Lys2474Asn
XM_005248280.2:c.7422G>C	XP_005248337.1:p.Lys2474Asn
XM_005248282.3:c.6678G>C	XP_005248339.2:p.Lys2226Asn
XM_006714467.2:c.7275G>C	XP_006714530.1:p.Lys2425Asn
XM_006714468.1:c.7224G>C	XP_006714531.1:p.Lys2408Asn
XM_011514014.1:c.7041G>C	XP_011512316.1:p.Lys2347Asn
XM_011514015.1:c.7264-1942G>C	XP_011512317.1:n.7264-1942G>C
XM_005248280.3:c.7422G>C	XP_005248337.1:p.Lys2474Asn
XM_005248282.5:c.6762G>C	XP_005248339.3:p.Lys2254Asn
XM_006714468.2:c.7224G>C	XP_006714531.1:p.Lys2408Asn
XM_017009329.1:c.7275G>C	XP_016864818.1:p.Lys2425Asn
XM_017009330.2:c.5805G>C	XP_016864819.1:p.Lys1935Asn
XM_017009331.1:c.5796G>C	XP_016864820.1:p.Lys1932Asn
NM_133433.4:c.7422G>C MANE Select	NP_597677.2:p.Lys2474Asn
NM_015384.5:c.7422G>C	NP_056199.2:p.Lys2474Asn