Canonical Allele Identifier: CA359522297

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064725C>A (hg19) ; chr5:g.37064623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064623C>A , CM000667.2:g.37064623C>A	GRCh38
NC_000005.9:g.37064725C>A , CM000667.1:g.37064725C>A	GRCh37
NC_000005.8:g.37100482C>A	NCBI36
NG_006987.1:g.192741C>A
NG_006987.2:g.192741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8146C>A (NIPBL) MANE Select	ENSP00000282516.8:p.Pro2716Thr
ENST00000652901.1:c.*90C>A (NIPBL)	ENSP00000499536.1:n.*90C>A
ENST00000282516.12:c.8146C>A (NIPBL)	ENSP00000282516.8:p.Pro2716Thr
ENST00000514335.1:n.2069C>A (NIPBL)
ENST00000621733.1:c.46C>A (NIPBL)	ENSP00000480694.1:p.Pro16Thr
NM_015384.4:c.*600C>A (NIPBL)	NP_056199.2:n.*600C>A
NM_133433.3:c.8146C>A (NIPBL)	NP_597677.2:p.Pro2716Thr
XM_005248280.2:c.*90C>A (NIPBL)	XP_005248337.1:n.*90C>A
XM_005248282.3:c.7402C>A (NIPBL)	XP_005248339.2:p.Pro2468Thr
XM_006714467.2:c.7999C>A (NIPBL)	XP_006714530.1:p.Pro2667Thr
XM_006714468.1:c.7948C>A (NIPBL)	XP_006714531.1:p.Pro2650Thr
XM_011514014.1:c.7765C>A (NIPBL)	XP_011512316.1:p.Pro2589Thr
XM_005248280.3:c.*90C>A (NIPBL)	XP_005248337.1:n.*90C>A
XM_005248282.5:c.7486C>A (NIPBL)	XP_005248339.3:p.Pro2496Thr
XM_006714468.2:c.7948C>A (NIPBL)	XP_006714531.1:p.Pro2650Thr
XM_017009329.1:c.*90C>A (NIPBL)	XP_016864818.1:n.*90C>A
XM_017009330.2:c.6529C>A (NIPBL)	XP_016864819.1:p.Pro2177Thr
XM_017009331.1:c.6520C>A (NIPBL)	XP_016864820.1:p.Pro2174Thr
XR_925644.2:n.12059G>T (CPLANE1)
NM_133433.4:c.8146C>A (NIPBL) MANE Select	NP_597677.2:p.Pro2716Thr
NM_015384.5:c.*600C>A (NIPBL)	NP_056199.2:n.*600C>A