Canonical Allele Identifier: CA10624573

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 353364
• ClinVar RCV Id: RCV000367876
• dbSNP Id: rs886060555
• gnomAD v3: 5-36876879-G-A
• gnomAD v4: 5-36876879-G-A
• MyVariant Identifiers: chr5:g.36876981G>A (hg19) ; chr5:g.36876879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876879G>A , CM000667.2:g.36876879G>A	GRCh38
NC_000005.9:g.36876981G>A , CM000667.1:g.36876981G>A	GRCh37
NC_000005.8:g.36912738G>A	NCBI36
NG_006987.1:g.4997G>A
NG_006987.2:g.4997G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-379G>A MANE Select	ENSP00000282516.8:n.-379G>A
ENST00000652901.1:c.-379G>A	ENSP00000499536.1:n.-379G>A
ENST00000282516.12:c.-379G>A	ENSP00000282516.8:n.-379G>A
ENST00000448238.2:c.-379G>A	ENSP00000406266.2:n.-379G>A
NM_015384.4:c.-379G>A	NP_056199.2:n.-379G>A
NM_133433.3:c.-379G>A	NP_597677.2:n.-379G>A
XM_005248280.2:c.-379G>A	XP_005248337.1:n.-379G>A
XM_006714467.2:c.-379G>A	XP_006714530.1:n.-379G>A
XM_006714468.1:c.-379G>A	XP_006714531.1:n.-379G>A
XM_011514014.1:c.-379G>A	XP_011512316.1:n.-379G>A
XM_011514015.1:c.-379G>A	XP_011512317.1:n.-379G>A
XM_005248280.3:c.-379G>A	XP_005248337.1:n.-379G>A
XM_006714468.2:c.-379G>A	XP_006714531.1:n.-379G>A
XM_017009329.1:c.-379G>A	XP_016864818.1:n.-379G>A
XM_017009331.1:c.-379G>A	XP_016864820.1:n.-379G>A
NM_133433.4:c.-379G>A MANE Select	NP_597677.2:n.-379G>A
NM_015384.5:c.-379G>A	NP_056199.2:n.-379G>A