Canonical Allele Identifier: CA359487568

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020772T>C (hg19) ; chr5:g.37020670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020670T>C , CM000667.2:g.37020670T>C	GRCh38
NC_000005.9:g.37020772T>C , CM000667.1:g.37020772T>C	GRCh37
NC_000005.8:g.37056529T>C	NCBI36
NG_006987.1:g.148788T>C
NG_006987.2:g.148788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5222T>C MANE Select	ENSP00000282516.8:p.Leu1741Ser
ENST00000652901.1:c.5222T>C	ENSP00000499536.1:p.Leu1741Ser
ENST00000282516.12:c.5222T>C	ENSP00000282516.8:p.Leu1741Ser
ENST00000448238.2:c.5222T>C	ENSP00000406266.2:p.Leu1741Ser
ENST00000621733.1:c.1-43908T>C	ENSP00000480694.1:n.1-43908T>C
NM_015384.4:c.5222T>C	NP_056199.2:p.Leu1741Ser
NM_133433.3:c.5222T>C	NP_597677.2:p.Leu1741Ser
XM_005248280.2:c.5222T>C	XP_005248337.1:p.Leu1741Ser
XM_005248282.3:c.4478T>C	XP_005248339.2:p.Leu1493Ser
XM_006714467.2:c.5222T>C	XP_006714530.1:p.Leu1741Ser
XM_006714468.1:c.5024T>C	XP_006714531.1:p.Leu1675Ser
XM_011514014.1:c.4841T>C	XP_011512316.1:p.Leu1614Ser
XM_011514015.1:c.5222T>C	XP_011512317.1:p.Leu1741Ser
XM_005248280.3:c.5222T>C	XP_005248337.1:p.Leu1741Ser
XM_005248282.5:c.4562T>C	XP_005248339.3:p.Leu1521Ser
XM_006714468.2:c.5024T>C	XP_006714531.1:p.Leu1675Ser
XM_017009329.1:c.5222T>C	XP_016864818.1:p.Leu1741Ser
XM_017009330.2:c.3605T>C	XP_016864819.1:p.Leu1202Ser
XM_017009331.1:c.3596T>C	XP_016864820.1:p.Leu1199Ser
NM_133433.4:c.5222T>C MANE Select	NP_597677.2:p.Leu1741Ser
NM_015384.5:c.5222T>C	NP_056199.2:p.Leu1741Ser