Canonical Allele Identifier: CA359521746

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064531-T-C
• MyVariant Identifiers: chr5:g.37064633T>C (hg19) ; chr5:g.37064531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064531T>C , CM000667.2:g.37064531T>C	GRCh38
NC_000005.9:g.37064633T>C , CM000667.1:g.37064633T>C	GRCh37
NC_000005.8:g.37100390T>C	NCBI36
NG_006987.1:g.192649T>C
NG_006987.2:g.192649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8054T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2685Ser
ENST00000652901.1:c.7948T>C (NIPBL)	ENSP00000499536.1:p.Ter2650Arg
ENST00000282516.12:c.8054T>C (NIPBL)	ENSP00000282516.8:p.Leu2685Ser
ENST00000514335.1:n.1977T>C (NIPBL)
ENST00000621733.1:c.1-47T>C (NIPBL)	ENSP00000480694.1:n.1-47T>C
NM_015384.4:c.*508T>C (NIPBL)	NP_056199.2:n.*508T>C
NM_133433.3:c.8054T>C (NIPBL)	NP_597677.2:p.Leu2685Ser
XM_005248280.2:c.8095T>C (NIPBL)	XP_005248337.1:p.Ter2699Arg
XM_005248282.3:c.7310T>C (NIPBL)	XP_005248339.2:p.Leu2437Ser
XM_006714467.2:c.7907T>C (NIPBL)	XP_006714530.1:p.Leu2636Ser
XM_006714468.1:c.7856T>C (NIPBL)	XP_006714531.1:p.Leu2619Ser
XM_011514014.1:c.7673T>C (NIPBL)	XP_011512316.1:p.Leu2558Ser
XM_005248280.3:c.8095T>C (NIPBL)	XP_005248337.1:p.Ter2699Arg
XM_005248282.5:c.7394T>C (NIPBL)	XP_005248339.3:p.Leu2465Ser
XM_006714468.2:c.7856T>C (NIPBL)	XP_006714531.1:p.Leu2619Ser
XM_017009329.1:c.7948T>C (NIPBL)	XP_016864818.1:p.Ter2650Arg
XM_017009330.2:c.6437T>C (NIPBL)	XP_016864819.1:p.Leu2146Ser
XM_017009331.1:c.6428T>C (NIPBL)	XP_016864820.1:p.Leu2143Ser
XR_925644.2:n.12151A>G (CPLANE1)
NM_133433.4:c.8054T>C (NIPBL) MANE Select	NP_597677.2:p.Leu2685Ser
NM_015384.5:c.*508T>C (NIPBL)	NP_056199.2:n.*508T>C