Canonical Allele Identifier: CA2673581688

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37045722-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045722A>T , CM000667.2:g.37045722A>T	GRCh38
NC_000005.9:g.37045824A>T , CM000667.1:g.37045824A>T	GRCh37
NC_000005.8:g.37081581A>T	NCBI36
NG_006987.1:g.173840A>T
NG_006987.2:g.173840A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6498+125A>T MANE Select	ENSP00000282516.8:n.6498+125A>T
ENST00000652901.1:c.6498+125A>T	ENSP00000499536.1:n.6498+125A>T
ENST00000282516.12:c.6498+125A>T	ENSP00000282516.8:n.6498+125A>T
ENST00000448238.2:c.6498+125A>T	ENSP00000406266.2:n.6498+125A>T
ENST00000621733.1:c.1-18856A>T	ENSP00000480694.1:n.1-18856A>T
NM_015384.4:c.6498+125A>T	NP_056199.2:n.6498+125A>T
NM_133433.3:c.6498+125A>T	NP_597677.2:n.6498+125A>T
XM_005248280.2:c.6498+125A>T	XP_005248337.1:n.6498+125A>T
XM_005248282.3:c.5754+125A>T	XP_005248339.2:n.5754+125A>T
XM_006714467.2:c.6498+125A>T	XP_006714530.1:n.6498+125A>T
XM_006714468.1:c.6300+125A>T	XP_006714531.1:n.6300+125A>T
XM_011514014.1:c.6117+125A>T	XP_011512316.1:n.6117+125A>T
XM_011514015.1:c.6498+125A>T	XP_011512317.1:n.6498+125A>T
XM_005248280.3:c.6498+125A>T	XP_005248337.1:n.6498+125A>T
XM_005248282.5:c.5838+125A>T	XP_005248339.3:n.5838+125A>T
XM_006714468.2:c.6300+125A>T	XP_006714531.1:n.6300+125A>T
XM_017009329.1:c.6498+125A>T	XP_016864818.1:n.6498+125A>T
XM_017009330.2:c.4881+125A>T	XP_016864819.1:n.4881+125A>T
XM_017009331.1:c.4872+125A>T	XP_016864820.1:n.4872+125A>T
NM_133433.4:c.6498+125A>T MANE Select	NP_597677.2:n.6498+125A>T
NM_015384.5:c.6498+125A>T	NP_056199.2:n.6498+125A>T