Canonical Allele Identifier: CA359504636

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2689584
• ClinVar RCV Id: RCV003486164
• MyVariant Identifiers: chr5:g.36986028A>G (hg19) ; chr5:g.36985926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985926A>G , CM000667.2:g.36985926A>G	GRCh38
NC_000005.9:g.36986028A>G , CM000667.1:g.36986028A>G	GRCh37
NC_000005.8:g.37021785A>G	NCBI36
NG_006987.1:g.114044A>G
NG_006987.2:g.114044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2746A>G MANE Select	ENSP00000282516.8:p.Lys916Glu
ENST00000652901.1:c.2746A>G	ENSP00000499536.1:p.Lys916Glu
ENST00000282516.12:c.2746A>G	ENSP00000282516.8:p.Lys916Glu
ENST00000448238.2:c.2746A>G	ENSP00000406266.2:p.Lys916Glu
ENST00000504430.5:n.2366A>G
ENST00000621733.1:c.1-78652A>G	ENSP00000480694.1:n.1-78652A>G
NM_015384.4:c.2746A>G	NP_056199.2:p.Lys916Glu
NM_133433.3:c.2746A>G	NP_597677.2:p.Lys916Glu
XM_005248280.2:c.2746A>G	XP_005248337.1:p.Lys916Glu
XM_005248282.3:c.2002A>G	XP_005248339.2:p.Lys668Glu
XM_006714467.2:c.2746A>G	XP_006714530.1:p.Lys916Glu
XM_006714468.1:c.2746A>G	XP_006714531.1:p.Lys916Glu
XM_011514014.1:c.2746A>G	XP_011512316.1:p.Lys916Glu
XM_011514015.1:c.2746A>G	XP_011512317.1:p.Lys916Glu
XM_005248280.3:c.2746A>G	XP_005248337.1:p.Lys916Glu
XM_005248282.5:c.2086A>G	XP_005248339.3:p.Lys696Glu
XM_006714468.2:c.2746A>G	XP_006714531.1:p.Lys916Glu
XM_017009329.1:c.2746A>G	XP_016864818.1:p.Lys916Glu
XM_017009330.2:c.1129A>G	XP_016864819.1:p.Lys377Glu
XM_017009331.1:c.1495+9524A>G	XP_016864820.1:n.1495+9524A>G
NM_133433.4:c.2746A>G MANE Select	NP_597677.2:p.Lys916Glu
NM_015384.5:c.2746A>G	NP_056199.2:p.Lys916Glu