Canonical Allele Identifier: CA1075100480

Gene: NIPBL

Linked Data

• dbSNP Id: rs1747955298
• gnomAD v3: 5-37010278-T-C
• gnomAD v4: 5-37010278-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010278T>C , CM000667.2:g.37010278T>C	GRCh38
NC_000005.9:g.37010380T>C , CM000667.1:g.37010380T>C	GRCh37
NC_000005.8:g.37046137T>C	NCBI36
NG_006987.1:g.138396T>C
NG_006987.2:g.138396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4560+53T>C MANE Select	ENSP00000282516.8:n.4560+53T>C
ENST00000652901.1:c.4560+53T>C	ENSP00000499536.1:n.4560+53T>C
ENST00000282516.12:c.4560+53T>C	ENSP00000282516.8:n.4560+53T>C
ENST00000448238.2:c.4560+53T>C	ENSP00000406266.2:n.4560+53T>C
ENST00000621733.1:c.1-54300T>C	ENSP00000480694.1:n.1-54300T>C
NM_015384.4:c.4560+53T>C	NP_056199.2:n.4560+53T>C
NM_133433.3:c.4560+53T>C	NP_597677.2:n.4560+53T>C
XM_005248280.2:c.4560+53T>C	XP_005248337.1:n.4560+53T>C
XM_005248282.3:c.3816+53T>C	XP_005248339.2:n.3816+53T>C
XM_006714467.2:c.4560+53T>C	XP_006714530.1:n.4560+53T>C
XM_006714468.1:c.4362+53T>C	XP_006714531.1:n.4362+53T>C
XM_011514014.1:c.4179+53T>C	XP_011512316.1:n.4179+53T>C
XM_011514015.1:c.4560+53T>C	XP_011512317.1:n.4560+53T>C
XM_005248280.3:c.4560+53T>C	XP_005248337.1:n.4560+53T>C
XM_005248282.5:c.3900+53T>C	XP_005248339.3:n.3900+53T>C
XM_006714468.2:c.4362+53T>C	XP_006714531.1:n.4362+53T>C
XM_017009329.1:c.4560+53T>C	XP_016864818.1:n.4560+53T>C
XM_017009330.2:c.2943+53T>C	XP_016864819.1:n.2943+53T>C
XM_017009331.1:c.2934+53T>C	XP_016864820.1:n.2934+53T>C
NM_133433.4:c.4560+53T>C MANE Select	NP_597677.2:n.4560+53T>C
NM_015384.5:c.4560+53T>C	NP_056199.2:n.4560+53T>C