Canonical Allele Identifier: CA359511955

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052535-T-C
• MyVariant Identifiers: chr5:g.37052637T>C (hg19) ; chr5:g.37052535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052535T>C , CM000667.2:g.37052535T>C	GRCh38
NC_000005.9:g.37052637T>C , CM000667.1:g.37052637T>C	GRCh37
NC_000005.8:g.37088394T>C	NCBI36
NG_006987.1:g.180653T>C
NG_006987.2:g.180653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7232T>C MANE Select	ENSP00000282516.8:p.Ile2411Thr
ENST00000652901.1:c.7232T>C	ENSP00000499536.1:p.Ile2411Thr
ENST00000282516.12:c.7232T>C	ENSP00000282516.8:p.Ile2411Thr
ENST00000448238.2:c.7232T>C	ENSP00000406266.2:p.Ile2411Thr
ENST00000514335.1:n.1114T>C
ENST00000621733.1:c.1-12043T>C	ENSP00000480694.1:n.1-12043T>C
NM_015384.4:c.7232T>C	NP_056199.2:p.Ile2411Thr
NM_133433.3:c.7232T>C	NP_597677.2:p.Ile2411Thr
XM_005248280.2:c.7232T>C	XP_005248337.1:p.Ile2411Thr
XM_005248282.3:c.6488T>C	XP_005248339.2:p.Ile2163Thr
XM_006714467.2:c.7232T>C	XP_006714530.1:p.Ile2411Thr
XM_006714468.1:c.7034T>C	XP_006714531.1:p.Ile2345Thr
XM_011514014.1:c.6851T>C	XP_011512316.1:p.Ile2284Thr
XM_011514015.1:c.7232T>C	XP_011512317.1:p.Ile2411Thr
XM_005248280.3:c.7232T>C	XP_005248337.1:p.Ile2411Thr
XM_005248282.5:c.6572T>C	XP_005248339.3:p.Ile2191Thr
XM_006714468.2:c.7034T>C	XP_006714531.1:p.Ile2345Thr
XM_017009329.1:c.7232T>C	XP_016864818.1:p.Ile2411Thr
XM_017009330.2:c.5615T>C	XP_016864819.1:p.Ile1872Thr
XM_017009331.1:c.5606T>C	XP_016864820.1:p.Ile1869Thr
NM_133433.4:c.7232T>C MANE Select	NP_597677.2:p.Ile2411Thr
NM_015384.5:c.7232T>C	NP_056199.2:p.Ile2411Thr