Canonical Allele Identifier: CA359522433

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064758G>C (hg19) ; chr5:g.37064656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064656G>C , CM000667.2:g.37064656G>C	GRCh38
NC_000005.9:g.37064758G>C , CM000667.1:g.37064758G>C	GRCh37
NC_000005.8:g.37100515G>C	NCBI36
NG_006987.1:g.192774G>C
NG_006987.2:g.192774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8179G>C (NIPBL) MANE Select	ENSP00000282516.8:p.Val2727Leu
ENST00000652901.1:c.*123G>C (NIPBL)	ENSP00000499536.1:n.*123G>C
ENST00000282516.12:c.8179G>C (NIPBL)	ENSP00000282516.8:p.Val2727Leu
ENST00000514335.1:n.2102G>C (NIPBL)
ENST00000621733.1:c.79G>C (NIPBL)	ENSP00000480694.1:p.Val27Leu
NM_015384.4:c.*633G>C (NIPBL)	NP_056199.2:n.*633G>C
NM_133433.3:c.8179G>C (NIPBL)	NP_597677.2:p.Val2727Leu
XM_005248280.2:c.*123G>C (NIPBL)	XP_005248337.1:n.*123G>C
XM_005248282.3:c.7435G>C (NIPBL)	XP_005248339.2:p.Val2479Leu
XM_006714467.2:c.8032G>C (NIPBL)	XP_006714530.1:p.Val2678Leu
XM_006714468.1:c.7981G>C (NIPBL)	XP_006714531.1:p.Val2661Leu
XM_011514014.1:c.7798G>C (NIPBL)	XP_011512316.1:p.Val2600Leu
XM_005248280.3:c.*123G>C (NIPBL)	XP_005248337.1:n.*123G>C
XM_005248282.5:c.7519G>C (NIPBL)	XP_005248339.3:p.Val2507Leu
XM_006714468.2:c.7981G>C (NIPBL)	XP_006714531.1:p.Val2661Leu
XM_017009329.1:c.*123G>C (NIPBL)	XP_016864818.1:n.*123G>C
XM_017009330.2:c.6562G>C (NIPBL)	XP_016864819.1:p.Val2188Leu
XM_017009331.1:c.6553G>C (NIPBL)	XP_016864820.1:p.Val2185Leu
XR_925644.2:n.12026C>G (CPLANE1)
NM_133433.4:c.8179G>C (NIPBL) MANE Select	NP_597677.2:p.Val2727Leu
NM_015384.5:c.*633G>C (NIPBL)	NP_056199.2:n.*633G>C