Canonical Allele Identifier: CA359487205

Gene: NIPBL

Linked Data

• dbSNP Id: rs1421237968
• gnomAD v2: 5-37020720-A-G
• gnomAD v4: 5-37020618-A-G
• MyVariant Identifiers: chr5:g.37020720A>G (hg19) ; chr5:g.37020618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020618A>G , CM000667.2:g.37020618A>G	GRCh38
NC_000005.9:g.37020720A>G , CM000667.1:g.37020720A>G	GRCh37
NC_000005.8:g.37056477A>G	NCBI36
NG_006987.1:g.148736A>G
NG_006987.2:g.148736A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5170A>G MANE Select	ENSP00000282516.8:p.Lys1724Glu
ENST00000652901.1:c.5170A>G	ENSP00000499536.1:p.Lys1724Glu
ENST00000282516.12:c.5170A>G	ENSP00000282516.8:p.Lys1724Glu
ENST00000448238.2:c.5170A>G	ENSP00000406266.2:p.Lys1724Glu
ENST00000621733.1:c.1-43960A>G	ENSP00000480694.1:n.1-43960A>G
NM_015384.4:c.5170A>G	NP_056199.2:p.Lys1724Glu
NM_133433.3:c.5170A>G	NP_597677.2:p.Lys1724Glu
XM_005248280.2:c.5170A>G	XP_005248337.1:p.Lys1724Glu
XM_005248282.3:c.4426A>G	XP_005248339.2:p.Lys1476Glu
XM_006714467.2:c.5170A>G	XP_006714530.1:p.Lys1724Glu
XM_006714468.1:c.4972A>G	XP_006714531.1:p.Lys1658Glu
XM_011514014.1:c.4789A>G	XP_011512316.1:p.Lys1597Glu
XM_011514015.1:c.5170A>G	XP_011512317.1:p.Lys1724Glu
XM_005248280.3:c.5170A>G	XP_005248337.1:p.Lys1724Glu
XM_005248282.5:c.4510A>G	XP_005248339.3:p.Lys1504Glu
XM_006714468.2:c.4972A>G	XP_006714531.1:p.Lys1658Glu
XM_017009329.1:c.5170A>G	XP_016864818.1:p.Lys1724Glu
XM_017009330.2:c.3553A>G	XP_016864819.1:p.Lys1185Glu
XM_017009331.1:c.3544A>G	XP_016864820.1:p.Lys1182Glu
NM_133433.4:c.5170A>G MANE Select	NP_597677.2:p.Lys1724Glu
NM_015384.5:c.5170A>G	NP_056199.2:p.Lys1724Glu