Canonical Allele Identifier: CA359508829

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2720098
• ClinVar RCV Id: RCV003499257
• MyVariant Identifiers: chr5:g.37049275A>C (hg19) ; chr5:g.37049173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049173A>C , CM000667.2:g.37049173A>C	GRCh38
NC_000005.9:g.37049275A>C , CM000667.1:g.37049275A>C	GRCh37
NC_000005.8:g.37085032A>C	NCBI36
NG_006987.1:g.177291A>C
NG_006987.2:g.177291A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6826A>C MANE Select	ENSP00000282516.8:p.Ser2276Arg
ENST00000652901.1:c.6826A>C	ENSP00000499536.1:p.Ser2276Arg
ENST00000282516.12:c.6826A>C	ENSP00000282516.8:p.Ser2276Arg
ENST00000448238.2:c.6826A>C	ENSP00000406266.2:p.Ser2276Arg
ENST00000621733.1:c.1-15405A>C	ENSP00000480694.1:n.1-15405A>C
NM_015384.4:c.6826A>C	NP_056199.2:p.Ser2276Arg
NM_133433.3:c.6826A>C	NP_597677.2:p.Ser2276Arg
XM_005248280.2:c.6826A>C	XP_005248337.1:p.Ser2276Arg
XM_005248282.3:c.6082A>C	XP_005248339.2:p.Ser2028Arg
XM_006714467.2:c.6826A>C	XP_006714530.1:p.Ser2276Arg
XM_006714468.1:c.6628A>C	XP_006714531.1:p.Ser2210Arg
XM_011514014.1:c.6445A>C	XP_011512316.1:p.Ser2149Arg
XM_011514015.1:c.6826A>C	XP_011512317.1:p.Ser2276Arg
XM_005248280.3:c.6826A>C	XP_005248337.1:p.Ser2276Arg
XM_005248282.5:c.6166A>C	XP_005248339.3:p.Ser2056Arg
XM_006714468.2:c.6628A>C	XP_006714531.1:p.Ser2210Arg
XM_017009329.1:c.6826A>C	XP_016864818.1:p.Ser2276Arg
XM_017009330.2:c.5209A>C	XP_016864819.1:p.Ser1737Arg
XM_017009331.1:c.5200A>C	XP_016864820.1:p.Ser1734Arg
NM_133433.4:c.6826A>C MANE Select	NP_597677.2:p.Ser2276Arg
NM_015384.5:c.6826A>C	NP_056199.2:p.Ser2276Arg