Canonical Allele Identifier: CA359520200

Gene: NIPBL

Linked Data

• dbSNP Id: rs1307337952
• gnomAD v2: 5-37063948-T-G
• gnomAD v3: 5-37063846-T-G
• gnomAD v4: 5-37063846-T-G
• MyVariant Identifiers: chr5:g.37063948T>G (hg19) ; chr5:g.37063846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063846T>G , CM000667.2:g.37063846T>G	GRCh38
NC_000005.9:g.37063948T>G , CM000667.1:g.37063948T>G	GRCh37
NC_000005.8:g.37099705T>G	NCBI36
NG_006987.1:g.191964T>G
NG_006987.2:g.191964T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7917T>G MANE Select	ENSP00000282516.8:p.Val2639=
ENST00000652901.1:c.7770T>G	ENSP00000499536.1:p.Val2590=
ENST00000282516.12:c.7917T>G	ENSP00000282516.8:p.Val2639=
ENST00000448238.2:c.7917T>G	ENSP00000406266.2:p.Val2639=
ENST00000513819.1:c.320T>G	ENSP00000421504.1:p.Phe107Cys
ENST00000514335.1:n.1799T>G
ENST00000621733.1:c.1-732T>G	ENSP00000480694.1:n.1-732T>G
NM_015384.4:c.7917T>G	NP_056199.2:p.Val2639=
NM_133433.3:c.7917T>G	NP_597677.2:p.Val2639=
XM_005248280.2:c.7917T>G	XP_005248337.1:p.Val2639=
XM_005248282.3:c.7173T>G	XP_005248339.2:p.Val2391=
XM_006714467.2:c.7770T>G	XP_006714530.1:p.Val2590=
XM_006714468.1:c.7719T>G	XP_006714531.1:p.Val2573=
XM_011514014.1:c.7536T>G	XP_011512316.1:p.Val2512=
XM_005248280.3:c.7917T>G	XP_005248337.1:p.Val2639=
XM_005248282.5:c.7257T>G	XP_005248339.3:p.Val2419=
XM_006714468.2:c.7719T>G	XP_006714531.1:p.Val2573=
XM_017009329.1:c.7770T>G	XP_016864818.1:p.Val2590=
XM_017009330.2:c.6300T>G	XP_016864819.1:p.Val2100=
XM_017009331.1:c.6291T>G	XP_016864820.1:p.Val2097=
NM_133433.4:c.7917T>G MANE Select	NP_597677.2:p.Val2639=
NM_015384.5:c.7917T>G	NP_056199.2:p.Val2639=