Canonical Allele Identifier: CA117056178

Gene: NIPBL

Linked Data

• dbSNP Id: rs968330631
• gnomAD v3: 5-37000552-C-G
• gnomAD v4: 5-37000552-C-G
• MyVariant Identifiers: chr5:g.37000654C>G (hg19) ; chr5:g.37000552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000552C>G , CM000667.2:g.37000552C>G	GRCh38
NC_000005.9:g.37000654C>G , CM000667.1:g.37000654C>G	GRCh37
NC_000005.8:g.37036411C>G	NCBI36
NG_006987.1:g.128670C>G
NG_006987.2:g.128670C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3484C>G MANE Select	ENSP00000282516.8:p.Pro1162Ala
ENST00000652901.1:c.3484C>G	ENSP00000499536.1:p.Pro1162Ala
ENST00000282516.12:c.3484C>G	ENSP00000282516.8:p.Pro1162Ala
ENST00000448238.2:c.3484C>G	ENSP00000406266.2:p.Pro1162Ala
ENST00000621733.1:c.1-64026C>G	ENSP00000480694.1:n.1-64026C>G
NM_015384.4:c.3484C>G	NP_056199.2:p.Pro1162Ala
NM_133433.3:c.3484C>G	NP_597677.2:p.Pro1162Ala
XM_005248280.2:c.3484C>G	XP_005248337.1:p.Pro1162Ala
XM_005248282.3:c.2740C>G	XP_005248339.2:p.Pro914Ala
XM_006714467.2:c.3484C>G	XP_006714530.1:p.Pro1162Ala
XM_006714468.1:c.3305-265C>G	XP_006714531.1:n.3305-265C>G
XM_011514014.1:c.3122-265C>G	XP_011512316.1:n.3122-265C>G
XM_011514015.1:c.3484C>G	XP_011512317.1:p.Pro1162Ala
XM_005248280.3:c.3484C>G	XP_005248337.1:p.Pro1162Ala
XM_005248282.5:c.2824C>G	XP_005248339.3:p.Pro942Ala
XM_006714468.2:c.3305-265C>G	XP_006714531.1:n.3305-265C>G
XM_017009329.1:c.3484C>G	XP_016864818.1:p.Pro1162Ala
XM_017009330.2:c.1867C>G	XP_016864819.1:p.Pro623Ala
XM_017009331.1:c.1858C>G	XP_016864820.1:p.Pro620Ala
NM_133433.4:c.3484C>G MANE Select	NP_597677.2:p.Pro1162Ala
NM_015384.5:c.3484C>G	NP_056199.2:p.Pro1162Ala