Canonical Allele Identifier: CA443904946

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020620A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020518A>G , CM000667.2:g.37020518A>G	GRCh38
NC_000005.9:g.37020620A>G , CM000667.1:g.37020620A>G	GRCh37
NC_000005.8:g.37056377A>G	NCBI36
NG_006987.1:g.148636A>G
NG_006987.2:g.148636A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5070A>G MANE Select	ENSP00000282516.8:p.Lys1690=
ENST00000652901.1:c.5070A>G	ENSP00000499536.1:p.Lys1690=
ENST00000282516.12:c.5070A>G	ENSP00000282516.8:p.Lys1690=
ENST00000448238.2:c.5070A>G	ENSP00000406266.2:p.Lys1690=
ENST00000621733.1:c.1-44060A>G	ENSP00000480694.1:n.1-44060A>G
NM_015384.4:c.5070A>G	NP_056199.2:p.Lys1690=
NM_133433.3:c.5070A>G	NP_597677.2:p.Lys1690=
XM_005248280.2:c.5070A>G	XP_005248337.1:p.Lys1690=
XM_005248282.3:c.4326A>G	XP_005248339.2:p.Lys1442=
XM_006714467.2:c.5070A>G	XP_006714530.1:p.Lys1690=
XM_006714468.1:c.4872A>G	XP_006714531.1:p.Lys1624=
XM_011514014.1:c.4689A>G	XP_011512316.1:p.Lys1563=
XM_011514015.1:c.5070A>G	XP_011512317.1:p.Lys1690=
XM_005248280.3:c.5070A>G	XP_005248337.1:p.Lys1690=
XM_005248282.5:c.4410A>G	XP_005248339.3:p.Lys1470=
XM_006714468.2:c.4872A>G	XP_006714531.1:p.Lys1624=
XM_017009329.1:c.5070A>G	XP_016864818.1:p.Lys1690=
XM_017009330.2:c.3453A>G	XP_016864819.1:p.Lys1151=
XM_017009331.1:c.3444A>G	XP_016864820.1:p.Lys1148=
NM_133433.4:c.5070A>G MANE Select	NP_597677.2:p.Lys1690=
NM_015384.5:c.5070A>G	NP_056199.2:p.Lys1690=