Canonical Allele Identifier: CA3237109

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 996259
• ClinVar RCV Id: RCV001290592 ; RCV003603090
• dbSNP Id: rs764147606
• ExAC: 5:37051914 C / G
• gnomAD v2: 5-37051914-C-G
• gnomAD v4: 5-37051812-C-G
• MyVariant Identifiers: chr5:g.37051914C>G (hg19) ; chr5:g.37051812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051812C>G , CM000667.2:g.37051812C>G	GRCh38
NC_000005.9:g.37051914C>G , CM000667.1:g.37051914C>G	GRCh37
NC_000005.8:g.37087671C>G	NCBI36
NG_006987.1:g.179930C>G
NG_006987.2:g.179930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6988C>G MANE Select	ENSP00000282516.8:p.Pro2330Ala
ENST00000652901.1:c.6988C>G	ENSP00000499536.1:p.Pro2330Ala
ENST00000282516.12:c.6988C>G	ENSP00000282516.8:p.Pro2330Ala
ENST00000448238.2:c.6988C>G	ENSP00000406266.2:p.Pro2330Ala
ENST00000514335.1:n.870C>G
ENST00000621733.1:c.1-12766C>G	ENSP00000480694.1:n.1-12766C>G
NM_015384.4:c.6988C>G	NP_056199.2:p.Pro2330Ala
NM_133433.3:c.6988C>G	NP_597677.2:p.Pro2330Ala
XM_005248280.2:c.6988C>G	XP_005248337.1:p.Pro2330Ala
XM_005248282.3:c.6244C>G	XP_005248339.2:p.Pro2082Ala
XM_006714467.2:c.6988C>G	XP_006714530.1:p.Pro2330Ala
XM_006714468.1:c.6790C>G	XP_006714531.1:p.Pro2264Ala
XM_011514014.1:c.6607C>G	XP_011512316.1:p.Pro2203Ala
XM_011514015.1:c.6988C>G	XP_011512317.1:p.Pro2330Ala
XM_005248280.3:c.6988C>G	XP_005248337.1:p.Pro2330Ala
XM_005248282.5:c.6328C>G	XP_005248339.3:p.Pro2110Ala
XM_006714468.2:c.6790C>G	XP_006714531.1:p.Pro2264Ala
XM_017009329.1:c.6988C>G	XP_016864818.1:p.Pro2330Ala
XM_017009330.2:c.5371C>G	XP_016864819.1:p.Pro1791Ala
XM_017009331.1:c.5362C>G	XP_016864820.1:p.Pro1788Ala
NM_133433.4:c.6988C>G MANE Select	NP_597677.2:p.Pro2330Ala
NM_015384.5:c.6988C>G	NP_056199.2:p.Pro2330Ala