Canonical Allele Identifier: CA443904466

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37016110-A-T
• MyVariant Identifiers: chr5:g.37016212A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016110A>T , CM000667.2:g.37016110A>T	GRCh38
NC_000005.9:g.37016212A>T , CM000667.1:g.37016212A>T	GRCh37
NC_000005.8:g.37051969A>T	NCBI36
NG_006987.1:g.144228A>T
NG_006987.2:g.144228A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4716A>T MANE Select	ENSP00000282516.8:p.Thr1572=
ENST00000652901.1:c.4716A>T	ENSP00000499536.1:p.Thr1572=
ENST00000282516.12:c.4716A>T	ENSP00000282516.8:p.Thr1572=
ENST00000448238.2:c.4716A>T	ENSP00000406266.2:p.Thr1572=
ENST00000621733.1:c.1-48468A>T	ENSP00000480694.1:n.1-48468A>T
NM_015384.4:c.4716A>T	NP_056199.2:p.Thr1572=
NM_133433.3:c.4716A>T	NP_597677.2:p.Thr1572=
XM_005248280.2:c.4716A>T	XP_005248337.1:p.Thr1572=
XM_005248282.3:c.3972A>T	XP_005248339.2:p.Thr1324=
XM_006714467.2:c.4716A>T	XP_006714530.1:p.Thr1572=
XM_006714468.1:c.4518A>T	XP_006714531.1:p.Thr1506=
XM_011514014.1:c.4335A>T	XP_011512316.1:p.Thr1445=
XM_011514015.1:c.4716A>T	XP_011512317.1:p.Thr1572=
XM_005248280.3:c.4716A>T	XP_005248337.1:p.Thr1572=
XM_005248282.5:c.4056A>T	XP_005248339.3:p.Thr1352=
XM_006714468.2:c.4518A>T	XP_006714531.1:p.Thr1506=
XM_017009329.1:c.4716A>T	XP_016864818.1:p.Thr1572=
XM_017009330.2:c.3099A>T	XP_016864819.1:p.Thr1033=
XM_017009331.1:c.3090A>T	XP_016864820.1:p.Thr1030=
NM_133433.4:c.4716A>T MANE Select	NP_597677.2:p.Thr1572=
NM_015384.5:c.4716A>T	NP_056199.2:p.Thr1572=