Canonical Allele Identifier: CA444096526

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755214691
• MyVariant Identifiers: chr5:g.37064808C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064706C>T , CM000667.2:g.37064706C>T	GRCh38
NC_000005.9:g.37064808C>T , CM000667.1:g.37064808C>T	GRCh37
NC_000005.8:g.37100565C>T	NCBI36
NG_006987.1:g.192824C>T
NG_006987.2:g.192824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8229C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2743=
ENST00000652901.1:c.*173C>T (NIPBL)	ENSP00000499536.1:n.*173C>T
ENST00000282516.12:c.8229C>T (NIPBL)	ENSP00000282516.8:p.Ser2743=
ENST00000514335.1:n.2152C>T (NIPBL)
ENST00000621733.1:c.129C>T (NIPBL)	ENSP00000480694.1:p.Ser43=
NM_015384.4:c.*683C>T (NIPBL)	NP_056199.2:n.*683C>T
NM_133433.3:c.8229C>T (NIPBL)	NP_597677.2:p.Ser2743=
XM_005248280.2:c.*173C>T (NIPBL)	XP_005248337.1:n.*173C>T
XM_005248282.3:c.7485C>T (NIPBL)	XP_005248339.2:p.Ser2495=
XM_006714467.2:c.8082C>T (NIPBL)	XP_006714530.1:p.Ser2694=
XM_006714468.1:c.8031C>T (NIPBL)	XP_006714531.1:p.Ser2677=
XM_011514014.1:c.7848C>T (NIPBL)	XP_011512316.1:p.Ser2616=
XM_005248280.3:c.*173C>T (NIPBL)	XP_005248337.1:n.*173C>T
XM_005248282.5:c.7569C>T (NIPBL)	XP_005248339.3:p.Ser2523=
XM_006714468.2:c.8031C>T (NIPBL)	XP_006714531.1:p.Ser2677=
XM_017009329.1:c.*173C>T (NIPBL)	XP_016864818.1:n.*173C>T
XM_017009330.2:c.6612C>T (NIPBL)	XP_016864819.1:p.Ser2204=
XM_017009331.1:c.6603C>T (NIPBL)	XP_016864820.1:p.Ser2201=
XR_925644.2:n.11976G>A (CPLANE1)
NM_133433.4:c.8229C>T (NIPBL) MANE Select	NP_597677.2:p.Ser2743=
NM_015384.5:c.*683C>T (NIPBL)	NP_056199.2:n.*683C>T