Canonical Allele Identifier: CA2519190431

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995475G>A , CM000667.2:g.36995475G>A	GRCh38
NC_000005.9:g.36995577G>A , CM000667.1:g.36995577G>A	GRCh37
NC_000005.8:g.37031334G>A	NCBI36
NG_006987.1:g.123593G>A
NG_006987.2:g.123593G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-147G>A MANE Select	ENSP00000282516.8:n.3122-147G>A
ENST00000652901.1:c.3122-147G>A	ENSP00000499536.1:n.3122-147G>A
ENST00000282516.12:c.3122-147G>A	ENSP00000282516.8:n.3122-147G>A
ENST00000448238.2:c.3122-147G>A	ENSP00000406266.2:n.3122-147G>A
ENST00000503274.1:n.326G>A
ENST00000504430.5:n.2742-147G>A
ENST00000621733.1:c.1-69103G>A	ENSP00000480694.1:n.1-69103G>A
NM_015384.4:c.3122-147G>A	NP_056199.2:n.3122-147G>A
NM_133433.3:c.3122-147G>A	NP_597677.2:n.3122-147G>A
XM_005248280.2:c.3122-147G>A	XP_005248337.1:n.3122-147G>A
XM_005248282.3:c.2378-147G>A	XP_005248339.2:n.2378-147G>A
XM_006714467.2:c.3122-147G>A	XP_006714530.1:n.3122-147G>A
XM_006714468.1:c.3122-147G>A	XP_006714531.1:n.3122-147G>A
XM_011514014.1:c.3122-5342G>A	XP_011512316.1:n.3122-5342G>A
XM_011514015.1:c.3122-147G>A	XP_011512317.1:n.3122-147G>A
XM_005248280.3:c.3122-147G>A	XP_005248337.1:n.3122-147G>A
XM_005248282.5:c.2462-147G>A	XP_005248339.3:n.2462-147G>A
XM_006714468.2:c.3122-147G>A	XP_006714531.1:n.3122-147G>A
XM_017009329.1:c.3122-147G>A	XP_016864818.1:n.3122-147G>A
XM_017009330.2:c.1505-147G>A	XP_016864819.1:n.1505-147G>A
XM_017009331.1:c.1496-147G>A	XP_016864820.1:n.1496-147G>A
NM_133433.4:c.3122-147G>A MANE Select	NP_597677.2:n.3122-147G>A
NM_015384.5:c.3122-147G>A	NP_056199.2:n.3122-147G>A