Canonical Allele Identifier: CA1075103505

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755154543
• gnomAD v3: 5-37064329-T-G
• gnomAD v4: 5-37064329-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064329T>G , CM000667.2:g.37064329T>G	GRCh38
NC_000005.9:g.37064431T>G , CM000667.1:g.37064431T>G	GRCh37
NC_000005.8:g.37100188T>G	NCBI36
NG_006987.1:g.192447T>G
NG_006987.2:g.192447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-198T>G (NIPBL) MANE Select	ENSP00000282516.8:n.8050-198T>G
ENST00000652901.1:c.7944-198T>G (NIPBL)	ENSP00000499536.1:n.7944-198T>G
ENST00000282516.12:c.8050-198T>G (NIPBL)	ENSP00000282516.8:n.8050-198T>G
ENST00000514335.1:n.1973-198T>G (NIPBL)
ENST00000621733.1:c.1-249T>G (NIPBL)	ENSP00000480694.1:n.1-249T>G
NM_015384.4:c.*306T>G (NIPBL)	NP_056199.2:n.*306T>G
NM_133433.3:c.8050-198T>G (NIPBL)	NP_597677.2:n.8050-198T>G
XM_005248280.2:c.8091-198T>G (NIPBL)	XP_005248337.1:n.8091-198T>G
XM_005248282.3:c.7306-198T>G (NIPBL)	XP_005248339.2:n.7306-198T>G
XM_006714467.2:c.7903-198T>G (NIPBL)	XP_006714530.1:n.7903-198T>G
XM_006714468.1:c.7852-198T>G (NIPBL)	XP_006714531.1:n.7852-198T>G
XM_011514014.1:c.7669-198T>G (NIPBL)	XP_011512316.1:n.7669-198T>G
XM_005248280.3:c.8091-198T>G (NIPBL)	XP_005248337.1:n.8091-198T>G
XM_005248282.5:c.7390-198T>G (NIPBL)	XP_005248339.3:n.7390-198T>G
XM_006714468.2:c.7852-198T>G (NIPBL)	XP_006714531.1:n.7852-198T>G
XM_017009329.1:c.7944-198T>G (NIPBL)	XP_016864818.1:n.7944-198T>G
XM_017009330.2:c.6433-198T>G (NIPBL)	XP_016864819.1:n.6433-198T>G
XM_017009331.1:c.6424-198T>G (NIPBL)	XP_016864820.1:n.6424-198T>G
XR_925644.2:n.12353A>C (CPLANE1)
NM_133433.4:c.8050-198T>G (NIPBL) MANE Select	NP_597677.2:n.8050-198T>G
NM_015384.5:c.*306T>G (NIPBL)	NP_056199.2:n.*306T>G