Canonical Allele Identifier: CA172704

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159129
• ClinVar RCV Id: RCV000146622
• dbSNP Id: rs587783958
• gnomAD v4: 5-37016167-G-T
• MyVariant Identifiers: chr5:g.37016269G>T (hg19) ; chr5:g.37016167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016167G>T , CM000667.2:g.37016167G>T	GRCh38
NC_000005.9:g.37016269G>T , CM000667.1:g.37016269G>T	GRCh37
NC_000005.8:g.37052026G>T	NCBI36
NG_006987.1:g.144285G>T
NG_006987.2:g.144285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4773G>T MANE Select	ENSP00000282516.8:p.Leu1591=
ENST00000652901.1:c.4773G>T	ENSP00000499536.1:p.Leu1591=
ENST00000282516.12:c.4773G>T	ENSP00000282516.8:p.Leu1591=
ENST00000448238.2:c.4773G>T	ENSP00000406266.2:p.Leu1591=
ENST00000621733.1:c.1-48411G>T	ENSP00000480694.1:n.1-48411G>T
NM_015384.4:c.4773G>T	NP_056199.2:p.Leu1591=
NM_133433.3:c.4773G>T	NP_597677.2:p.Leu1591=
XM_005248280.2:c.4773G>T	XP_005248337.1:p.Leu1591=
XM_005248282.3:c.4029G>T	XP_005248339.2:p.Leu1343=
XM_006714467.2:c.4773G>T	XP_006714530.1:p.Leu1591=
XM_006714468.1:c.4575G>T	XP_006714531.1:p.Leu1525=
XM_011514014.1:c.4392G>T	XP_011512316.1:p.Leu1464=
XM_011514015.1:c.4773G>T	XP_011512317.1:p.Leu1591=
XM_005248280.3:c.4773G>T	XP_005248337.1:p.Leu1591=
XM_005248282.5:c.4113G>T	XP_005248339.3:p.Leu1371=
XM_006714468.2:c.4575G>T	XP_006714531.1:p.Leu1525=
XM_017009329.1:c.4773G>T	XP_016864818.1:p.Leu1591=
XM_017009330.2:c.3156G>T	XP_016864819.1:p.Leu1052=
XM_017009331.1:c.3147G>T	XP_016864820.1:p.Leu1049=
NM_133433.4:c.4773G>T MANE Select	NP_597677.2:p.Leu1591=
NM_015384.5:c.4773G>T	NP_056199.2:p.Leu1591=