Canonical Allele Identifier: CA559295128

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1459745
• ClinVar RCV Id: RCV001959155
• dbSNP Id: rs1382498807
• gnomAD v2: 5-37000997-C-T
• gnomAD v3: 5-37000895-C-T
• gnomAD v4: 5-37000895-C-T
• MyVariant Identifiers: chr5:g.37000997C>T (hg19) ; chr5:g.37000895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000895C>T , CM000667.2:g.37000895C>T	GRCh38
NC_000005.9:g.37000997C>T , CM000667.1:g.37000997C>T	GRCh37
NC_000005.8:g.37036754C>T	NCBI36
NG_006987.1:g.129013C>T
NG_006987.2:g.129013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3574+7C>T MANE Select	ENSP00000282516.8:n.3574+7C>T
ENST00000652901.1:c.3574+7C>T	ENSP00000499536.1:n.3574+7C>T
ENST00000282516.12:c.3574+7C>T	ENSP00000282516.8:n.3574+7C>T
ENST00000448238.2:c.3574+7C>T	ENSP00000406266.2:n.3574+7C>T
ENST00000621733.1:c.1-63683C>T	ENSP00000480694.1:n.1-63683C>T
NM_015384.4:c.3574+7C>T	NP_056199.2:n.3574+7C>T
NM_133433.3:c.3574+7C>T	NP_597677.2:n.3574+7C>T
XM_005248280.2:c.3574+7C>T	XP_005248337.1:n.3574+7C>T
XM_005248282.3:c.2830+7C>T	XP_005248339.2:n.2830+7C>T
XM_006714467.2:c.3574+7C>T	XP_006714530.1:n.3574+7C>T
XM_006714468.1:c.3376+7C>T	XP_006714531.1:n.3376+7C>T
XM_011514014.1:c.3193+7C>T	XP_011512316.1:n.3193+7C>T
XM_011514015.1:c.3574+7C>T	XP_011512317.1:n.3574+7C>T
XM_005248280.3:c.3574+7C>T	XP_005248337.1:n.3574+7C>T
XM_005248282.5:c.2914+7C>T	XP_005248339.3:n.2914+7C>T
XM_006714468.2:c.3376+7C>T	XP_006714531.1:n.3376+7C>T
XM_017009329.1:c.3574+7C>T	XP_016864818.1:n.3574+7C>T
XM_017009330.2:c.1957+7C>T	XP_016864819.1:n.1957+7C>T
XM_017009331.1:c.1948+7C>T	XP_016864820.1:n.1948+7C>T
NM_133433.4:c.3574+7C>T MANE Select	NP_597677.2:n.3574+7C>T
NM_015384.5:c.3574+7C>T	NP_056199.2:n.3574+7C>T