Canonical Allele Identifier: CA443916408

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064566-T-C
• MyVariant Identifiers: chr5:g.37064668T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064566T>C , CM000667.2:g.37064566T>C	GRCh38
NC_000005.9:g.37064668T>C , CM000667.1:g.37064668T>C	GRCh37
NC_000005.8:g.37100425T>C	NCBI36
NG_006987.1:g.192684T>C
NG_006987.2:g.192684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8089T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2697=
ENST00000652901.1:c.*33T>C (NIPBL)	ENSP00000499536.1:n.*33T>C
ENST00000282516.12:c.8089T>C (NIPBL)	ENSP00000282516.8:p.Leu2697=
ENST00000514335.1:n.2012T>C (NIPBL)
ENST00000621733.1:c.1-12T>C (NIPBL)	ENSP00000480694.1:n.1-12T>C
NM_015384.4:c.*543T>C (NIPBL)	NP_056199.2:n.*543T>C
NM_133433.3:c.8089T>C (NIPBL)	NP_597677.2:p.Leu2697=
XM_005248280.2:c.*33T>C (NIPBL)	XP_005248337.1:n.*33T>C
XM_005248282.3:c.7345T>C (NIPBL)	XP_005248339.2:p.Leu2449=
XM_006714467.2:c.7942T>C (NIPBL)	XP_006714530.1:p.Leu2648=
XM_006714468.1:c.7891T>C (NIPBL)	XP_006714531.1:p.Leu2631=
XM_011514014.1:c.7708T>C (NIPBL)	XP_011512316.1:p.Leu2570=
XM_005248280.3:c.*33T>C (NIPBL)	XP_005248337.1:n.*33T>C
XM_005248282.5:c.7429T>C (NIPBL)	XP_005248339.3:p.Leu2477=
XM_006714468.2:c.7891T>C (NIPBL)	XP_006714531.1:p.Leu2631=
XM_017009329.1:c.*33T>C (NIPBL)	XP_016864818.1:n.*33T>C
XM_017009330.2:c.6472T>C (NIPBL)	XP_016864819.1:p.Leu2158=
XM_017009331.1:c.6463T>C (NIPBL)	XP_016864820.1:p.Leu2155=
XR_925644.2:n.12116A>G (CPLANE1)
NM_133433.4:c.8089T>C (NIPBL) MANE Select	NP_597677.2:p.Leu2697=
NM_015384.5:c.*543T>C (NIPBL)	NP_056199.2:n.*543T>C