Canonical Allele Identifier: CA117052585

Gene: NIPBL

Linked Data

• dbSNP Id: rs1003208255
• gnomAD v2: 5-36995687-T-C
• gnomAD v3: 5-36995585-T-C
• gnomAD v4: 5-36995585-T-C
• MyVariant Identifiers: chr5:g.36995687T>C (hg19) ; chr5:g.36995585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995585T>C , CM000667.2:g.36995585T>C	GRCh38
NC_000005.9:g.36995687T>C , CM000667.1:g.36995687T>C	GRCh37
NC_000005.8:g.37031444T>C	NCBI36
NG_006987.1:g.123703T>C
NG_006987.2:g.123703T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-37T>C MANE Select	ENSP00000282516.8:n.3122-37T>C
ENST00000652901.1:c.3122-37T>C	ENSP00000499536.1:n.3122-37T>C
ENST00000282516.12:c.3122-37T>C	ENSP00000282516.8:n.3122-37T>C
ENST00000448238.2:c.3122-37T>C	ENSP00000406266.2:n.3122-37T>C
ENST00000503274.1:n.436T>C
ENST00000504430.5:n.2742-37T>C
ENST00000621733.1:c.1-68993T>C	ENSP00000480694.1:n.1-68993T>C
NM_015384.4:c.3122-37T>C	NP_056199.2:n.3122-37T>C
NM_133433.3:c.3122-37T>C	NP_597677.2:n.3122-37T>C
XM_005248280.2:c.3122-37T>C	XP_005248337.1:n.3122-37T>C
XM_005248282.3:c.2378-37T>C	XP_005248339.2:n.2378-37T>C
XM_006714467.2:c.3122-37T>C	XP_006714530.1:n.3122-37T>C
XM_006714468.1:c.3122-37T>C	XP_006714531.1:n.3122-37T>C
XM_011514014.1:c.3122-5232T>C	XP_011512316.1:n.3122-5232T>C
XM_011514015.1:c.3122-37T>C	XP_011512317.1:n.3122-37T>C
XM_005248280.3:c.3122-37T>C	XP_005248337.1:n.3122-37T>C
XM_005248282.5:c.2462-37T>C	XP_005248339.3:n.2462-37T>C
XM_006714468.2:c.3122-37T>C	XP_006714531.1:n.3122-37T>C
XM_017009329.1:c.3122-37T>C	XP_016864818.1:n.3122-37T>C
XM_017009330.2:c.1505-37T>C	XP_016864819.1:n.1505-37T>C
XM_017009331.1:c.1496-37T>C	XP_016864820.1:n.1496-37T>C
NM_133433.4:c.3122-37T>C MANE Select	NP_597677.2:n.3122-37T>C
NM_015384.5:c.3122-37T>C	NP_056199.2:n.3122-37T>C