Canonical Allele Identifier: CA443916381

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064529-A-G
• MyVariant Identifiers: chr5:g.37064631A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064529A>G , CM000667.2:g.37064529A>G	GRCh38
NC_000005.9:g.37064631A>G , CM000667.1:g.37064631A>G	GRCh37
NC_000005.8:g.37100388A>G	NCBI36
NG_006987.1:g.192647A>G
NG_006987.2:g.192647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8052A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2684=
ENST00000652901.1:c.7946A>G (NIPBL)	ENSP00000499536.1:p.His2649Arg
ENST00000282516.12:c.8052A>G (NIPBL)	ENSP00000282516.8:p.Ser2684=
ENST00000514335.1:n.1975A>G (NIPBL)
ENST00000621733.1:c.1-49A>G (NIPBL)	ENSP00000480694.1:n.1-49A>G
NM_015384.4:c.*506A>G (NIPBL)	NP_056199.2:n.*506A>G
NM_133433.3:c.8052A>G (NIPBL)	NP_597677.2:p.Ser2684=
XM_005248280.2:c.8093A>G (NIPBL)	XP_005248337.1:p.His2698Arg
XM_005248282.3:c.7308A>G (NIPBL)	XP_005248339.2:p.Ser2436=
XM_006714467.2:c.7905A>G (NIPBL)	XP_006714530.1:p.Ser2635=
XM_006714468.1:c.7854A>G (NIPBL)	XP_006714531.1:p.Ser2618=
XM_011514014.1:c.7671A>G (NIPBL)	XP_011512316.1:p.Ser2557=
XM_005248280.3:c.8093A>G (NIPBL)	XP_005248337.1:p.His2698Arg
XM_005248282.5:c.7392A>G (NIPBL)	XP_005248339.3:p.Ser2464=
XM_006714468.2:c.7854A>G (NIPBL)	XP_006714531.1:p.Ser2618=
XM_017009329.1:c.7946A>G (NIPBL)	XP_016864818.1:p.His2649Arg
XM_017009330.2:c.6435A>G (NIPBL)	XP_016864819.1:p.Ser2145=
XM_017009331.1:c.6426A>G (NIPBL)	XP_016864820.1:p.Ser2142=
XR_925644.2:n.12153T>C (CPLANE1)
NM_133433.4:c.8052A>G (NIPBL) MANE Select	NP_597677.2:p.Ser2684=
NM_015384.5:c.*506A>G (NIPBL)	NP_056199.2:n.*506A>G