Canonical Allele Identifier: CA359521841

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064550-T-A
• MyVariant Identifiers: chr5:g.37064652T>A (hg19) ; chr5:g.37064550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064550T>A , CM000667.2:g.37064550T>A	GRCh38
NC_000005.9:g.37064652T>A , CM000667.1:g.37064652T>A	GRCh37
NC_000005.8:g.37100409T>A	NCBI36
NG_006987.1:g.192668T>A
NG_006987.2:g.192668T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8073T>A (NIPBL) MANE Select	ENSP00000282516.8:p.Asn2691Lys
ENST00000652901.1:c.*17T>A (NIPBL)	ENSP00000499536.1:n.*17T>A
ENST00000282516.12:c.8073T>A (NIPBL)	ENSP00000282516.8:p.Asn2691Lys
ENST00000514335.1:n.1996T>A (NIPBL)
ENST00000621733.1:c.1-28T>A (NIPBL)	ENSP00000480694.1:n.1-28T>A
NM_015384.4:c.*527T>A (NIPBL)	NP_056199.2:n.*527T>A
NM_133433.3:c.8073T>A (NIPBL)	NP_597677.2:p.Asn2691Lys
XM_005248280.2:c.*17T>A (NIPBL)	XP_005248337.1:n.*17T>A
XM_005248282.3:c.7329T>A (NIPBL)	XP_005248339.2:p.Asn2443Lys
XM_006714467.2:c.7926T>A (NIPBL)	XP_006714530.1:p.Asn2642Lys
XM_006714468.1:c.7875T>A (NIPBL)	XP_006714531.1:p.Asn2625Lys
XM_011514014.1:c.7692T>A (NIPBL)	XP_011512316.1:p.Asn2564Lys
XM_005248280.3:c.*17T>A (NIPBL)	XP_005248337.1:n.*17T>A
XM_005248282.5:c.7413T>A (NIPBL)	XP_005248339.3:p.Asn2471Lys
XM_006714468.2:c.7875T>A (NIPBL)	XP_006714531.1:p.Asn2625Lys
XM_017009329.1:c.*17T>A (NIPBL)	XP_016864818.1:n.*17T>A
XM_017009330.2:c.6456T>A (NIPBL)	XP_016864819.1:p.Asn2152Lys
XM_017009331.1:c.6447T>A (NIPBL)	XP_016864820.1:p.Asn2149Lys
XR_925644.2:n.12132A>T (CPLANE1)
NM_133433.4:c.8073T>A (NIPBL) MANE Select	NP_597677.2:p.Asn2691Lys
NM_015384.5:c.*527T>A (NIPBL)	NP_056199.2:n.*527T>A