Canonical Allele Identifier: CA444096047

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36985811-A-C
• MyVariant Identifiers: chr5:g.36985913A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985811A>C , CM000667.2:g.36985811A>C	GRCh38
NC_000005.9:g.36985913A>C , CM000667.1:g.36985913A>C	GRCh37
NC_000005.8:g.37021670A>C	NCBI36
NG_006987.1:g.113929A>C
NG_006987.2:g.113929A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2631A>C MANE Select	ENSP00000282516.8:p.Ser877=
ENST00000652901.1:c.2631A>C	ENSP00000499536.1:p.Ser877=
ENST00000282516.12:c.2631A>C	ENSP00000282516.8:p.Ser877=
ENST00000448238.2:c.2631A>C	ENSP00000406266.2:p.Ser877=
ENST00000504430.5:n.2251A>C
ENST00000621733.1:c.1-78767A>C	ENSP00000480694.1:n.1-78767A>C
NM_015384.4:c.2631A>C	NP_056199.2:p.Ser877=
NM_133433.3:c.2631A>C	NP_597677.2:p.Ser877=
XM_005248280.2:c.2631A>C	XP_005248337.1:p.Ser877=
XM_005248282.3:c.1887A>C	XP_005248339.2:p.Ser629=
XM_006714467.2:c.2631A>C	XP_006714530.1:p.Ser877=
XM_006714468.1:c.2631A>C	XP_006714531.1:p.Ser877=
XM_011514014.1:c.2631A>C	XP_011512316.1:p.Ser877=
XM_011514015.1:c.2631A>C	XP_011512317.1:p.Ser877=
XM_005248280.3:c.2631A>C	XP_005248337.1:p.Ser877=
XM_005248282.5:c.1971A>C	XP_005248339.3:p.Ser657=
XM_006714468.2:c.2631A>C	XP_006714531.1:p.Ser877=
XM_017009329.1:c.2631A>C	XP_016864818.1:p.Ser877=
XM_017009330.2:c.1014A>C	XP_016864819.1:p.Ser338=
XM_017009331.1:c.1495+9409A>C	XP_016864820.1:n.1495+9409A>C
NM_133433.4:c.2631A>C MANE Select	NP_597677.2:p.Ser877=
NM_015384.5:c.2631A>C	NP_056199.2:p.Ser877=