Canonical Allele Identifier: CA3236134

Gene: NIPBL

Linked Data

• dbSNP Id: rs765931580
• ExAC: 5:36985425 A / C
• gnomAD v2: 5-36985425-A-C
• gnomAD v4: 5-36985323-A-C
• MyVariant Identifiers: chr5:g.36985425A>C (hg19) ; chr5:g.36985323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985323A>C , CM000667.2:g.36985323A>C	GRCh38
NC_000005.9:g.36985425A>C , CM000667.1:g.36985425A>C	GRCh37
NC_000005.8:g.37021182A>C	NCBI36
NG_006987.1:g.113441A>C
NG_006987.2:g.113441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2143A>C MANE Select	ENSP00000282516.8:p.Lys715Gln
ENST00000652901.1:c.2143A>C	ENSP00000499536.1:p.Lys715Gln
ENST00000282516.12:c.2143A>C	ENSP00000282516.8:p.Lys715Gln
ENST00000448238.2:c.2143A>C	ENSP00000406266.2:p.Lys715Gln
ENST00000504430.5:n.1763A>C
ENST00000621733.1:c.1-79255A>C	ENSP00000480694.1:n.1-79255A>C
NM_015384.4:c.2143A>C	NP_056199.2:p.Lys715Gln
NM_133433.3:c.2143A>C	NP_597677.2:p.Lys715Gln
XM_005248280.2:c.2143A>C	XP_005248337.1:p.Lys715Gln
XM_005248282.3:c.1399A>C	XP_005248339.2:p.Lys467Gln
XM_006714467.2:c.2143A>C	XP_006714530.1:p.Lys715Gln
XM_006714468.1:c.2143A>C	XP_006714531.1:p.Lys715Gln
XM_011514014.1:c.2143A>C	XP_011512316.1:p.Lys715Gln
XM_011514015.1:c.2143A>C	XP_011512317.1:p.Lys715Gln
XM_005248280.3:c.2143A>C	XP_005248337.1:p.Lys715Gln
XM_005248282.5:c.1483A>C	XP_005248339.3:p.Lys495Gln
XM_006714468.2:c.2143A>C	XP_006714531.1:p.Lys715Gln
XM_017009329.1:c.2143A>C	XP_016864818.1:p.Lys715Gln
XM_017009330.2:c.526A>C	XP_016864819.1:p.Lys176Gln
XM_017009331.1:c.1495+8921A>C	XP_016864820.1:n.1495+8921A>C
NM_133433.4:c.2143A>C MANE Select	NP_597677.2:p.Lys715Gln
NM_015384.5:c.2143A>C	NP_056199.2:p.Lys715Gln