Canonical Allele Identifier: CA272048

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159076
• ClinVar RCV Id: RCV000146569
• dbSNP Id: rs80358356
• MyVariant Identifiers: chr5:g.36995911G>A (hg19) ; chr5:g.36995809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995809G>A , CM000667.2:g.36995809G>A	GRCh38
NC_000005.9:g.36995911G>A , CM000667.1:g.36995911G>A	GRCh37
NC_000005.8:g.37031668G>A	NCBI36
NG_006987.1:g.123927G>A
NG_006987.2:g.123927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+5G>A MANE Select	ENSP00000282516.8:n.3304+5G>A
ENST00000652901.1:c.3304+5G>A	ENSP00000499536.1:n.3304+5G>A
ENST00000282516.12:c.3304+5G>A	ENSP00000282516.8:n.3304+5G>A
ENST00000448238.2:c.3304+5G>A	ENSP00000406266.2:n.3304+5G>A
ENST00000503274.1:n.655+5G>A
ENST00000504430.5:n.2924+5G>A
ENST00000509429.1:n.55+5G>A
ENST00000621733.1:c.1-68769G>A	ENSP00000480694.1:n.1-68769G>A
NM_015384.4:c.3304+5G>A	NP_056199.2:n.3304+5G>A
NM_133433.3:c.3304+5G>A	NP_597677.2:n.3304+5G>A
XM_005248280.2:c.3304+5G>A	XP_005248337.1:n.3304+5G>A
XM_005248282.3:c.2560+5G>A	XP_005248339.2:n.2560+5G>A
XM_006714467.2:c.3304+5G>A	XP_006714530.1:n.3304+5G>A
XM_006714468.1:c.3304+5G>A	XP_006714531.1:n.3304+5G>A
XM_011514014.1:c.3122-5008G>A	XP_011512316.1:n.3122-5008G>A
XM_011514015.1:c.3304+5G>A	XP_011512317.1:n.3304+5G>A
XM_005248280.3:c.3304+5G>A	XP_005248337.1:n.3304+5G>A
XM_005248282.5:c.2644+5G>A	XP_005248339.3:n.2644+5G>A
XM_006714468.2:c.3304+5G>A	XP_006714531.1:n.3304+5G>A
XM_017009329.1:c.3304+5G>A	XP_016864818.1:n.3304+5G>A
XM_017009330.2:c.1687+5G>A	XP_016864819.1:n.1687+5G>A
XM_017009331.1:c.1678+5G>A	XP_016864820.1:n.1678+5G>A
NM_133433.4:c.3304+5G>A MANE Select	NP_597677.2:n.3304+5G>A
NM_015384.5:c.3304+5G>A	NP_056199.2:n.3304+5G>A