Canonical Allele Identifier: CA272278

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159217
• ClinVar RCV Id: RCV000146711 ; RCV000361663
• dbSNP Id: rs587784030
• MyVariant Identifiers: chr5:g.37051938G>C (hg19) ; chr5:g.37051836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051836G>C , CM000667.2:g.37051836G>C	GRCh38
NC_000005.9:g.37051938G>C , CM000667.1:g.37051938G>C	GRCh37
NC_000005.8:g.37087695G>C	NCBI36
NG_006987.1:g.179954G>C
NG_006987.2:g.179954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7012G>C MANE Select	ENSP00000282516.8:p.Ala2338Pro
ENST00000652901.1:c.7012G>C	ENSP00000499536.1:p.Ala2338Pro
ENST00000282516.12:c.7012G>C	ENSP00000282516.8:p.Ala2338Pro
ENST00000448238.2:c.7012G>C	ENSP00000406266.2:p.Ala2338Pro
ENST00000514335.1:n.894G>C
ENST00000621733.1:c.1-12742G>C	ENSP00000480694.1:n.1-12742G>C
NM_015384.4:c.7012G>C	NP_056199.2:p.Ala2338Pro
NM_133433.3:c.7012G>C	NP_597677.2:p.Ala2338Pro
XM_005248280.2:c.7012G>C	XP_005248337.1:p.Ala2338Pro
XM_005248282.3:c.6268G>C	XP_005248339.2:p.Ala2090Pro
XM_006714467.2:c.7012G>C	XP_006714530.1:p.Ala2338Pro
XM_006714468.1:c.6814G>C	XP_006714531.1:p.Ala2272Pro
XM_011514014.1:c.6631G>C	XP_011512316.1:p.Ala2211Pro
XM_011514015.1:c.7012G>C	XP_011512317.1:p.Ala2338Pro
XM_005248280.3:c.7012G>C	XP_005248337.1:p.Ala2338Pro
XM_005248282.5:c.6352G>C	XP_005248339.3:p.Ala2118Pro
XM_006714468.2:c.6814G>C	XP_006714531.1:p.Ala2272Pro
XM_017009329.1:c.7012G>C	XP_016864818.1:p.Ala2338Pro
XM_017009330.2:c.5395G>C	XP_016864819.1:p.Ala1799Pro
XM_017009331.1:c.5386G>C	XP_016864820.1:p.Ala1796Pro
NM_133433.4:c.7012G>C MANE Select	NP_597677.2:p.Ala2338Pro
NM_015384.5:c.7012G>C	NP_056199.2:p.Ala2338Pro