Canonical Allele Identifier: CA359518523

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061002A>G (hg19) ; chr5:g.37060900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060900A>G , CM000667.2:g.37060900A>G	GRCh38
NC_000005.9:g.37061002A>G , CM000667.1:g.37061002A>G	GRCh37
NC_000005.8:g.37096759A>G	NCBI36
NG_006987.1:g.189018A>G
NG_006987.2:g.189018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7742A>G MANE Select	ENSP00000282516.8:p.Asn2581Ser
ENST00000652901.1:c.7595A>G	ENSP00000499536.1:p.Asn2532Ser
ENST00000282516.12:c.7742A>G	ENSP00000282516.8:p.Asn2581Ser
ENST00000448238.2:c.7742A>G	ENSP00000406266.2:p.Asn2581Ser
ENST00000513819.1:c.263+1735A>G	ENSP00000421504.1:n.263+1735A>G
ENST00000514335.1:n.1624A>G
ENST00000621733.1:c.1-3678A>G	ENSP00000480694.1:n.1-3678A>G
NM_015384.4:c.7742A>G	NP_056199.2:p.Asn2581Ser
NM_133433.3:c.7742A>G	NP_597677.2:p.Asn2581Ser
XM_005248280.2:c.7742A>G	XP_005248337.1:p.Asn2581Ser
XM_005248282.3:c.6998A>G	XP_005248339.2:p.Asn2333Ser
XM_006714467.2:c.7595A>G	XP_006714530.1:p.Asn2532Ser
XM_006714468.1:c.7544A>G	XP_006714531.1:p.Asn2515Ser
XM_011514014.1:c.7361A>G	XP_011512316.1:p.Asn2454Ser
XM_011514015.1:c.*54A>G	XP_011512317.1:n.*54A>G
XM_005248280.3:c.7742A>G	XP_005248337.1:p.Asn2581Ser
XM_005248282.5:c.7082A>G	XP_005248339.3:p.Asn2361Ser
XM_006714468.2:c.7544A>G	XP_006714531.1:p.Asn2515Ser
XM_017009329.1:c.7595A>G	XP_016864818.1:p.Asn2532Ser
XM_017009330.2:c.6125A>G	XP_016864819.1:p.Asn2042Ser
XM_017009331.1:c.6116A>G	XP_016864820.1:p.Asn2039Ser
NM_133433.4:c.7742A>G MANE Select	NP_597677.2:p.Asn2581Ser
NM_015384.5:c.7742A>G	NP_056199.2:p.Asn2581Ser