Canonical Allele Identifier: CA3236619

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2904478
• ClinVar RCV Id: RCV003603709
• dbSNP Id: rs749218502
• ExAC: 5:37016222 C / A
• gnomAD v2: 5-37016222-C-A
• gnomAD v3: 5-37016120-C-A
• gnomAD v4: 5-37016120-C-A
• MyVariant Identifiers: chr5:g.37016222C>A (hg19) ; chr5:g.37016120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016120C>A , CM000667.2:g.37016120C>A	GRCh38
NC_000005.9:g.37016222C>A , CM000667.1:g.37016222C>A	GRCh37
NC_000005.8:g.37051979C>A	NCBI36
NG_006987.1:g.144238C>A
NG_006987.2:g.144238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4726C>A MANE Select	ENSP00000282516.8:p.Pro1576Thr
ENST00000652901.1:c.4726C>A	ENSP00000499536.1:p.Pro1576Thr
ENST00000282516.12:c.4726C>A	ENSP00000282516.8:p.Pro1576Thr
ENST00000448238.2:c.4726C>A	ENSP00000406266.2:p.Pro1576Thr
ENST00000621733.1:c.1-48458C>A	ENSP00000480694.1:n.1-48458C>A
NM_015384.4:c.4726C>A	NP_056199.2:p.Pro1576Thr
NM_133433.3:c.4726C>A	NP_597677.2:p.Pro1576Thr
XM_005248280.2:c.4726C>A	XP_005248337.1:p.Pro1576Thr
XM_005248282.3:c.3982C>A	XP_005248339.2:p.Pro1328Thr
XM_006714467.2:c.4726C>A	XP_006714530.1:p.Pro1576Thr
XM_006714468.1:c.4528C>A	XP_006714531.1:p.Pro1510Thr
XM_011514014.1:c.4345C>A	XP_011512316.1:p.Pro1449Thr
XM_011514015.1:c.4726C>A	XP_011512317.1:p.Pro1576Thr
XM_005248280.3:c.4726C>A	XP_005248337.1:p.Pro1576Thr
XM_005248282.5:c.4066C>A	XP_005248339.3:p.Pro1356Thr
XM_006714468.2:c.4528C>A	XP_006714531.1:p.Pro1510Thr
XM_017009329.1:c.4726C>A	XP_016864818.1:p.Pro1576Thr
XM_017009330.2:c.3109C>A	XP_016864819.1:p.Pro1037Thr
XM_017009331.1:c.3100C>A	XP_016864820.1:p.Pro1034Thr
NM_133433.4:c.4726C>A MANE Select	NP_597677.2:p.Pro1576Thr
NM_015384.5:c.4726C>A	NP_056199.2:p.Pro1576Thr