Canonical Allele Identifier: CA359522129

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 1805582
• ClinVar RCV Id: RCV002472000
• MyVariant Identifiers: chr5:g.37064690G>A (hg19) ; chr5:g.37064588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064588G>A , CM000667.2:g.37064588G>A	GRCh38
NC_000005.9:g.37064690G>A , CM000667.1:g.37064690G>A	GRCh37
NC_000005.8:g.37100447G>A	NCBI36
NG_006987.1:g.192706G>A
NG_006987.2:g.192706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8111G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2704Asn
ENST00000652901.1:c.*55G>A (NIPBL)	ENSP00000499536.1:n.*55G>A
ENST00000282516.12:c.8111G>A (NIPBL)	ENSP00000282516.8:p.Ser2704Asn
ENST00000514335.1:n.2034G>A (NIPBL)
ENST00000621733.1:c.11G>A (NIPBL)	ENSP00000480694.1:p.Ser4Asn
NM_015384.4:c.*565G>A (NIPBL)	NP_056199.2:n.*565G>A
NM_133433.3:c.8111G>A (NIPBL)	NP_597677.2:p.Ser2704Asn
XM_005248280.2:c.*55G>A (NIPBL)	XP_005248337.1:n.*55G>A
XM_005248282.3:c.7367G>A (NIPBL)	XP_005248339.2:p.Ser2456Asn
XM_006714467.2:c.7964G>A (NIPBL)	XP_006714530.1:p.Ser2655Asn
XM_006714468.1:c.7913G>A (NIPBL)	XP_006714531.1:p.Ser2638Asn
XM_011514014.1:c.7730G>A (NIPBL)	XP_011512316.1:p.Ser2577Asn
XM_005248280.3:c.*55G>A (NIPBL)	XP_005248337.1:n.*55G>A
XM_005248282.5:c.7451G>A (NIPBL)	XP_005248339.3:p.Ser2484Asn
XM_006714468.2:c.7913G>A (NIPBL)	XP_006714531.1:p.Ser2638Asn
XM_017009329.1:c.*55G>A (NIPBL)	XP_016864818.1:n.*55G>A
XM_017009330.2:c.6494G>A (NIPBL)	XP_016864819.1:p.Ser2165Asn
XM_017009331.1:c.6485G>A (NIPBL)	XP_016864820.1:p.Ser2162Asn
XR_925644.2:n.12094C>T (CPLANE1)
NM_133433.4:c.8111G>A (NIPBL) MANE Select	NP_597677.2:p.Ser2704Asn
NM_015384.5:c.*565G>A (NIPBL)	NP_056199.2:n.*565G>A