Canonical Allele Identifier: CA359522378

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064744C>T (hg19) ; chr5:g.37064642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064642C>T , CM000667.2:g.37064642C>T	GRCh38
NC_000005.9:g.37064744C>T , CM000667.1:g.37064744C>T	GRCh37
NC_000005.8:g.37100501C>T	NCBI36
NG_006987.1:g.192760C>T
NG_006987.2:g.192760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8165C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Pro2722Leu
ENST00000652901.1:c.*109C>T (NIPBL)	ENSP00000499536.1:n.*109C>T
ENST00000282516.12:c.8165C>T (NIPBL)	ENSP00000282516.8:p.Pro2722Leu
ENST00000514335.1:n.2088C>T (NIPBL)
ENST00000621733.1:c.65C>T (NIPBL)	ENSP00000480694.1:p.Pro22Leu
NM_015384.4:c.*619C>T (NIPBL)	NP_056199.2:n.*619C>T
NM_133433.3:c.8165C>T (NIPBL)	NP_597677.2:p.Pro2722Leu
XM_005248280.2:c.*109C>T (NIPBL)	XP_005248337.1:n.*109C>T
XM_005248282.3:c.7421C>T (NIPBL)	XP_005248339.2:p.Pro2474Leu
XM_006714467.2:c.8018C>T (NIPBL)	XP_006714530.1:p.Pro2673Leu
XM_006714468.1:c.7967C>T (NIPBL)	XP_006714531.1:p.Pro2656Leu
XM_011514014.1:c.7784C>T (NIPBL)	XP_011512316.1:p.Pro2595Leu
XM_005248280.3:c.*109C>T (NIPBL)	XP_005248337.1:n.*109C>T
XM_005248282.5:c.7505C>T (NIPBL)	XP_005248339.3:p.Pro2502Leu
XM_006714468.2:c.7967C>T (NIPBL)	XP_006714531.1:p.Pro2656Leu
XM_017009329.1:c.*109C>T (NIPBL)	XP_016864818.1:n.*109C>T
XM_017009330.2:c.6548C>T (NIPBL)	XP_016864819.1:p.Pro2183Leu
XM_017009331.1:c.6539C>T (NIPBL)	XP_016864820.1:p.Pro2180Leu
XR_925644.2:n.12040G>A (CPLANE1)
NM_133433.4:c.8165C>T (NIPBL) MANE Select	NP_597677.2:p.Pro2722Leu
NM_015384.5:c.*619C>T (NIPBL)	NP_056199.2:n.*619C>T