Canonical Allele Identifier: CA359522443

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064761G>C (hg19) ; chr5:g.37064659G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064659G>C , CM000667.2:g.37064659G>C	GRCh38
NC_000005.9:g.37064761G>C , CM000667.1:g.37064761G>C	GRCh37
NC_000005.8:g.37100518G>C	NCBI36
NG_006987.1:g.192777G>C
NG_006987.2:g.192777G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8182G>C (NIPBL) MANE Select	ENSP00000282516.8:p.Val2728Leu
ENST00000652901.1:c.*126G>C (NIPBL)	ENSP00000499536.1:n.*126G>C
ENST00000282516.12:c.8182G>C (NIPBL)	ENSP00000282516.8:p.Val2728Leu
ENST00000514335.1:n.2105G>C (NIPBL)
ENST00000621733.1:c.82G>C (NIPBL)	ENSP00000480694.1:p.Val28Leu
NM_015384.4:c.*636G>C (NIPBL)	NP_056199.2:n.*636G>C
NM_133433.3:c.8182G>C (NIPBL)	NP_597677.2:p.Val2728Leu
XM_005248280.2:c.*126G>C (NIPBL)	XP_005248337.1:n.*126G>C
XM_005248282.3:c.7438G>C (NIPBL)	XP_005248339.2:p.Val2480Leu
XM_006714467.2:c.8035G>C (NIPBL)	XP_006714530.1:p.Val2679Leu
XM_006714468.1:c.7984G>C (NIPBL)	XP_006714531.1:p.Val2662Leu
XM_011514014.1:c.7801G>C (NIPBL)	XP_011512316.1:p.Val2601Leu
XM_005248280.3:c.*126G>C (NIPBL)	XP_005248337.1:n.*126G>C
XM_005248282.5:c.7522G>C (NIPBL)	XP_005248339.3:p.Val2508Leu
XM_006714468.2:c.7984G>C (NIPBL)	XP_006714531.1:p.Val2662Leu
XM_017009329.1:c.*126G>C (NIPBL)	XP_016864818.1:n.*126G>C
XM_017009330.2:c.6565G>C (NIPBL)	XP_016864819.1:p.Val2189Leu
XM_017009331.1:c.6556G>C (NIPBL)	XP_016864820.1:p.Val2186Leu
XR_925644.2:n.12023C>G (CPLANE1)
NM_133433.4:c.8182G>C (NIPBL) MANE Select	NP_597677.2:p.Val2728Leu
NM_015384.5:c.*636G>C (NIPBL)	NP_056199.2:n.*636G>C