Canonical Allele Identifier: CA359522259

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064717T>G (hg19) ; chr5:g.37064615T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064615T>G , CM000667.2:g.37064615T>G	GRCh38
NC_000005.9:g.37064717T>G , CM000667.1:g.37064717T>G	GRCh37
NC_000005.8:g.37100474T>G	NCBI36
NG_006987.1:g.192733T>G
NG_006987.2:g.192733T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8138T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Ile2713Ser
ENST00000652901.1:c.*82T>G (NIPBL)	ENSP00000499536.1:n.*82T>G
ENST00000282516.12:c.8138T>G (NIPBL)	ENSP00000282516.8:p.Ile2713Ser
ENST00000514335.1:n.2061T>G (NIPBL)
ENST00000621733.1:c.38T>G (NIPBL)	ENSP00000480694.1:p.Ile13Ser
NM_015384.4:c.*592T>G (NIPBL)	NP_056199.2:n.*592T>G
NM_133433.3:c.8138T>G (NIPBL)	NP_597677.2:p.Ile2713Ser
XM_005248280.2:c.*82T>G (NIPBL)	XP_005248337.1:n.*82T>G
XM_005248282.3:c.7394T>G (NIPBL)	XP_005248339.2:p.Ile2465Ser
XM_006714467.2:c.7991T>G (NIPBL)	XP_006714530.1:p.Ile2664Ser
XM_006714468.1:c.7940T>G (NIPBL)	XP_006714531.1:p.Ile2647Ser
XM_011514014.1:c.7757T>G (NIPBL)	XP_011512316.1:p.Ile2586Ser
XM_005248280.3:c.*82T>G (NIPBL)	XP_005248337.1:n.*82T>G
XM_005248282.5:c.7478T>G (NIPBL)	XP_005248339.3:p.Ile2493Ser
XM_006714468.2:c.7940T>G (NIPBL)	XP_006714531.1:p.Ile2647Ser
XM_017009329.1:c.*82T>G (NIPBL)	XP_016864818.1:n.*82T>G
XM_017009330.2:c.6521T>G (NIPBL)	XP_016864819.1:p.Ile2174Ser
XM_017009331.1:c.6512T>G (NIPBL)	XP_016864820.1:p.Ile2171Ser
XR_925644.2:n.12067A>C (CPLANE1)
NM_133433.4:c.8138T>G (NIPBL) MANE Select	NP_597677.2:p.Ile2713Ser
NM_015384.5:c.*592T>G (NIPBL)	NP_056199.2:n.*592T>G