Canonical Allele Identifier: CA1075100466

Gene: NIPBL

Linked Data

• dbSNP Id: rs1747949744
• gnomAD v3: 5-37010233-A-G
• gnomAD v4: 5-37010233-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010233A>G , CM000667.2:g.37010233A>G	GRCh38
NC_000005.9:g.37010335A>G , CM000667.1:g.37010335A>G	GRCh37
NC_000005.8:g.37046092A>G	NCBI36
NG_006987.1:g.138351A>G
NG_006987.2:g.138351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4560+8A>G MANE Select	ENSP00000282516.8:n.4560+8A>G
ENST00000652901.1:c.4560+8A>G	ENSP00000499536.1:n.4560+8A>G
ENST00000282516.12:c.4560+8A>G	ENSP00000282516.8:n.4560+8A>G
ENST00000448238.2:c.4560+8A>G	ENSP00000406266.2:n.4560+8A>G
ENST00000621733.1:c.1-54345A>G	ENSP00000480694.1:n.1-54345A>G
NM_015384.4:c.4560+8A>G	NP_056199.2:n.4560+8A>G
NM_133433.3:c.4560+8A>G	NP_597677.2:n.4560+8A>G
XM_005248280.2:c.4560+8A>G	XP_005248337.1:n.4560+8A>G
XM_005248282.3:c.3816+8A>G	XP_005248339.2:n.3816+8A>G
XM_006714467.2:c.4560+8A>G	XP_006714530.1:n.4560+8A>G
XM_006714468.1:c.4362+8A>G	XP_006714531.1:n.4362+8A>G
XM_011514014.1:c.4179+8A>G	XP_011512316.1:n.4179+8A>G
XM_011514015.1:c.4560+8A>G	XP_011512317.1:n.4560+8A>G
XM_005248280.3:c.4560+8A>G	XP_005248337.1:n.4560+8A>G
XM_005248282.5:c.3900+8A>G	XP_005248339.3:n.3900+8A>G
XM_006714468.2:c.4362+8A>G	XP_006714531.1:n.4362+8A>G
XM_017009329.1:c.4560+8A>G	XP_016864818.1:n.4560+8A>G
XM_017009330.2:c.2943+8A>G	XP_016864819.1:n.2943+8A>G
XM_017009331.1:c.2934+8A>G	XP_016864820.1:n.2934+8A>G
NM_133433.4:c.4560+8A>G MANE Select	NP_597677.2:n.4560+8A>G
NM_015384.5:c.4560+8A>G	NP_056199.2:n.4560+8A>G