Canonical Allele Identifier: CA359496654

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37036449-T-A
• MyVariant Identifiers: chr5:g.37036551T>A (hg19) ; chr5:g.37036449T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37036449T>A , CM000667.2:g.37036449T>A	GRCh38
NC_000005.9:g.37036551T>A , CM000667.1:g.37036551T>A	GRCh37
NC_000005.8:g.37072308T>A	NCBI36
NG_006987.1:g.164567T>A
NG_006987.2:g.164567T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5933T>A MANE Select	ENSP00000282516.8:p.Leu1978Gln
ENST00000652901.1:c.5933T>A	ENSP00000499536.1:p.Leu1978Gln
ENST00000282516.12:c.5933T>A	ENSP00000282516.8:p.Leu1978Gln
ENST00000448238.2:c.5933T>A	ENSP00000406266.2:p.Leu1978Gln
ENST00000621733.1:c.1-28129T>A	ENSP00000480694.1:n.1-28129T>A
NM_015384.4:c.5933T>A	NP_056199.2:p.Leu1978Gln
NM_133433.3:c.5933T>A	NP_597677.2:p.Leu1978Gln
XM_005248280.2:c.5933T>A	XP_005248337.1:p.Leu1978Gln
XM_005248282.3:c.5189T>A	XP_005248339.2:p.Leu1730Gln
XM_006714467.2:c.5933T>A	XP_006714530.1:p.Leu1978Gln
XM_006714468.1:c.5735T>A	XP_006714531.1:p.Leu1912Gln
XM_011514014.1:c.5552T>A	XP_011512316.1:p.Leu1851Gln
XM_011514015.1:c.5933T>A	XP_011512317.1:p.Leu1978Gln
XM_005248280.3:c.5933T>A	XP_005248337.1:p.Leu1978Gln
XM_005248282.5:c.5273T>A	XP_005248339.3:p.Leu1758Gln
XM_006714468.2:c.5735T>A	XP_006714531.1:p.Leu1912Gln
XM_017009329.1:c.5933T>A	XP_016864818.1:p.Leu1978Gln
XM_017009330.2:c.4316T>A	XP_016864819.1:p.Leu1439Gln
XM_017009331.1:c.4307T>A	XP_016864820.1:p.Leu1436Gln
NM_133433.4:c.5933T>A MANE Select	NP_597677.2:p.Leu1978Gln
NM_015384.5:c.5933T>A	NP_056199.2:p.Leu1978Gln