Canonical Allele Identifier: CA359474806

Gene: NIPBL

Linked Data

• dbSNP Id: rs1253388106
• gnomAD v2: 5-36958229-G-C
• gnomAD v4: 5-36958127-G-C
• MyVariant Identifiers: chr5:g.36958229G>C (hg19) ; chr5:g.36958127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958127G>C , CM000667.2:g.36958127G>C	GRCh38
NC_000005.9:g.36958229G>C , CM000667.1:g.36958229G>C	GRCh37
NC_000005.8:g.36993986G>C	NCBI36
NG_006987.1:g.86245G>C
NG_006987.2:g.86245G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.254G>C MANE Select	ENSP00000282516.8:p.Ser85Thr
ENST00000652901.1:c.254G>C	ENSP00000499536.1:p.Ser85Thr
ENST00000282516.12:c.254G>C	ENSP00000282516.8:p.Ser85Thr
ENST00000448238.2:c.254G>C	ENSP00000406266.2:p.Ser85Thr
ENST00000505998.5:n.233G>C
ENST00000621733.1:c.-1+81105G>C	ENSP00000480694.1:n.-1+81105G>C
NM_015384.4:c.254G>C	NP_056199.2:p.Ser85Thr
NM_133433.3:c.254G>C	NP_597677.2:p.Ser85Thr
XM_005248280.2:c.254G>C	XP_005248337.1:p.Ser85Thr
XM_006714467.2:c.254G>C	XP_006714530.1:p.Ser85Thr
XM_006714468.1:c.254G>C	XP_006714531.1:p.Ser85Thr
XM_011514014.1:c.254G>C	XP_011512316.1:p.Ser85Thr
XM_011514015.1:c.254G>C	XP_011512317.1:p.Ser85Thr
XM_005248280.3:c.254G>C	XP_005248337.1:p.Ser85Thr
XM_006714468.2:c.254G>C	XP_006714531.1:p.Ser85Thr
XM_017009329.1:c.254G>C	XP_016864818.1:p.Ser85Thr
XM_017009331.1:c.254G>C	XP_016864820.1:p.Ser85Thr
NM_133433.4:c.254G>C MANE Select	NP_597677.2:p.Ser85Thr
NM_015384.5:c.254G>C	NP_056199.2:p.Ser85Thr