Canonical Allele Identifier: CA444096498

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755211820
• gnomAD v3: 5-37064658-A-C
• gnomAD v4: 5-37064658-A-C
• MyVariant Identifiers: chr5:g.37064760A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064658A>C , CM000667.2:g.37064658A>C	GRCh38
NC_000005.9:g.37064760A>C , CM000667.1:g.37064760A>C	GRCh37
NC_000005.8:g.37100517A>C	NCBI36
NG_006987.1:g.192776A>C
NG_006987.2:g.192776A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8181A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Val2727=
ENST00000652901.1:c.*125A>C (NIPBL)	ENSP00000499536.1:n.*125A>C
ENST00000282516.12:c.8181A>C (NIPBL)	ENSP00000282516.8:p.Val2727=
ENST00000514335.1:n.2104A>C (NIPBL)
ENST00000621733.1:c.81A>C (NIPBL)	ENSP00000480694.1:p.Val27=
NM_015384.4:c.*635A>C (NIPBL)	NP_056199.2:n.*635A>C
NM_133433.3:c.8181A>C (NIPBL)	NP_597677.2:p.Val2727=
XM_005248280.2:c.*125A>C (NIPBL)	XP_005248337.1:n.*125A>C
XM_005248282.3:c.7437A>C (NIPBL)	XP_005248339.2:p.Val2479=
XM_006714467.2:c.8034A>C (NIPBL)	XP_006714530.1:p.Val2678=
XM_006714468.1:c.7983A>C (NIPBL)	XP_006714531.1:p.Val2661=
XM_011514014.1:c.7800A>C (NIPBL)	XP_011512316.1:p.Val2600=
XM_005248280.3:c.*125A>C (NIPBL)	XP_005248337.1:n.*125A>C
XM_005248282.5:c.7521A>C (NIPBL)	XP_005248339.3:p.Val2507=
XM_006714468.2:c.7983A>C (NIPBL)	XP_006714531.1:p.Val2661=
XM_017009329.1:c.*125A>C (NIPBL)	XP_016864818.1:n.*125A>C
XM_017009330.2:c.6564A>C (NIPBL)	XP_016864819.1:p.Val2188=
XM_017009331.1:c.6555A>C (NIPBL)	XP_016864820.1:p.Val2185=
XR_925644.2:n.12024T>G (CPLANE1)
NM_133433.4:c.8181A>C (NIPBL) MANE Select	NP_597677.2:p.Val2727=
NM_015384.5:c.*635A>C (NIPBL)	NP_056199.2:n.*635A>C