Canonical Allele Identifier: CA117052934

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1249757
• ClinVar RCV Id: RCV001649893
• dbSNP Id: rs75303479
• gnomAD v2: 5-36996027-T-C
• gnomAD v3: 5-36995925-T-C
• gnomAD v4: 5-36995925-T-C
• MyVariant Identifiers: chr5:g.36996027T>C (hg19) ; chr5:g.36995925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995925T>C , CM000667.2:g.36995925T>C	GRCh38
NC_000005.9:g.36996027T>C , CM000667.1:g.36996027T>C	GRCh37
NC_000005.8:g.37031784T>C	NCBI36
NG_006987.1:g.124043T>C
NG_006987.2:g.124043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+121T>C MANE Select	ENSP00000282516.8:n.3304+121T>C
ENST00000652901.1:c.3304+121T>C	ENSP00000499536.1:n.3304+121T>C
ENST00000282516.12:c.3304+121T>C	ENSP00000282516.8:n.3304+121T>C
ENST00000448238.2:c.3304+121T>C	ENSP00000406266.2:n.3304+121T>C
ENST00000503274.1:n.655+121T>C
ENST00000504430.5:n.2924+121T>C
ENST00000509429.1:n.55+121T>C
ENST00000621733.1:c.1-68653T>C	ENSP00000480694.1:n.1-68653T>C
NM_015384.4:c.3304+121T>C	NP_056199.2:n.3304+121T>C
NM_133433.3:c.3304+121T>C	NP_597677.2:n.3304+121T>C
XM_005248280.2:c.3304+121T>C	XP_005248337.1:n.3304+121T>C
XM_005248282.3:c.2560+121T>C	XP_005248339.2:n.2560+121T>C
XM_006714467.2:c.3304+121T>C	XP_006714530.1:n.3304+121T>C
XM_006714468.1:c.3304+121T>C	XP_006714531.1:n.3304+121T>C
XM_011514014.1:c.3122-4892T>C	XP_011512316.1:n.3122-4892T>C
XM_011514015.1:c.3304+121T>C	XP_011512317.1:n.3304+121T>C
XM_005248280.3:c.3304+121T>C	XP_005248337.1:n.3304+121T>C
XM_005248282.5:c.2644+121T>C	XP_005248339.3:n.2644+121T>C
XM_006714468.2:c.3304+121T>C	XP_006714531.1:n.3304+121T>C
XM_017009329.1:c.3304+121T>C	XP_016864818.1:n.3304+121T>C
XM_017009330.2:c.1687+121T>C	XP_016864819.1:n.1687+121T>C
XM_017009331.1:c.1678+121T>C	XP_016864820.1:n.1678+121T>C
NM_133433.4:c.3304+121T>C MANE Select	NP_597677.2:n.3304+121T>C
NM_015384.5:c.3304+121T>C	NP_056199.2:n.3304+121T>C