Canonical Allele Identifier: CA359499405

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36985482G>C (hg19) ; chr5:g.36985380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985380G>C , CM000667.2:g.36985380G>C	GRCh38
NC_000005.9:g.36985482G>C , CM000667.1:g.36985482G>C	GRCh37
NC_000005.8:g.37021239G>C	NCBI36
NG_006987.1:g.113498G>C
NG_006987.2:g.113498G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2200G>C MANE Select	ENSP00000282516.8:p.Glu734Gln
ENST00000652901.1:c.2200G>C	ENSP00000499536.1:p.Glu734Gln
ENST00000282516.12:c.2200G>C	ENSP00000282516.8:p.Glu734Gln
ENST00000448238.2:c.2200G>C	ENSP00000406266.2:p.Glu734Gln
ENST00000504430.5:n.1820G>C
ENST00000621733.1:c.1-79198G>C	ENSP00000480694.1:n.1-79198G>C
NM_015384.4:c.2200G>C	NP_056199.2:p.Glu734Gln
NM_133433.3:c.2200G>C	NP_597677.2:p.Glu734Gln
XM_005248280.2:c.2200G>C	XP_005248337.1:p.Glu734Gln
XM_005248282.3:c.1456G>C	XP_005248339.2:p.Glu486Gln
XM_006714467.2:c.2200G>C	XP_006714530.1:p.Glu734Gln
XM_006714468.1:c.2200G>C	XP_006714531.1:p.Glu734Gln
XM_011514014.1:c.2200G>C	XP_011512316.1:p.Glu734Gln
XM_011514015.1:c.2200G>C	XP_011512317.1:p.Glu734Gln
XM_005248280.3:c.2200G>C	XP_005248337.1:p.Glu734Gln
XM_005248282.5:c.1540G>C	XP_005248339.3:p.Glu514Gln
XM_006714468.2:c.2200G>C	XP_006714531.1:p.Glu734Gln
XM_017009329.1:c.2200G>C	XP_016864818.1:p.Glu734Gln
XM_017009330.2:c.583G>C	XP_016864819.1:p.Glu195Gln
XM_017009331.1:c.1495+8978G>C	XP_016864820.1:n.1495+8978G>C
NM_133433.4:c.2200G>C MANE Select	NP_597677.2:p.Glu734Gln
NM_015384.5:c.2200G>C	NP_056199.2:p.Glu734Gln