Canonical Allele Identifier: CA359511947

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052534-A-G
• MyVariant Identifiers: chr5:g.37052636A>G (hg19) ; chr5:g.37052534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052534A>G , CM000667.2:g.37052534A>G	GRCh38
NC_000005.9:g.37052636A>G , CM000667.1:g.37052636A>G	GRCh37
NC_000005.8:g.37088393A>G	NCBI36
NG_006987.1:g.180652A>G
NG_006987.2:g.180652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7231A>G MANE Select	ENSP00000282516.8:p.Ile2411Val
ENST00000652901.1:c.7231A>G	ENSP00000499536.1:p.Ile2411Val
ENST00000282516.12:c.7231A>G	ENSP00000282516.8:p.Ile2411Val
ENST00000448238.2:c.7231A>G	ENSP00000406266.2:p.Ile2411Val
ENST00000514335.1:n.1113A>G
ENST00000621733.1:c.1-12044A>G	ENSP00000480694.1:n.1-12044A>G
NM_015384.4:c.7231A>G	NP_056199.2:p.Ile2411Val
NM_133433.3:c.7231A>G	NP_597677.2:p.Ile2411Val
XM_005248280.2:c.7231A>G	XP_005248337.1:p.Ile2411Val
XM_005248282.3:c.6487A>G	XP_005248339.2:p.Ile2163Val
XM_006714467.2:c.7231A>G	XP_006714530.1:p.Ile2411Val
XM_006714468.1:c.7033A>G	XP_006714531.1:p.Ile2345Val
XM_011514014.1:c.6850A>G	XP_011512316.1:p.Ile2284Val
XM_011514015.1:c.7231A>G	XP_011512317.1:p.Ile2411Val
XM_005248280.3:c.7231A>G	XP_005248337.1:p.Ile2411Val
XM_005248282.5:c.6571A>G	XP_005248339.3:p.Ile2191Val
XM_006714468.2:c.7033A>G	XP_006714531.1:p.Ile2345Val
XM_017009329.1:c.7231A>G	XP_016864818.1:p.Ile2411Val
XM_017009330.2:c.5614A>G	XP_016864819.1:p.Ile1872Val
XM_017009331.1:c.5605A>G	XP_016864820.1:p.Ile1869Val
NM_133433.4:c.7231A>G MANE Select	NP_597677.2:p.Ile2411Val
NM_015384.5:c.7231A>G	NP_056199.2:p.Ile2411Val