Canonical Allele Identifier: CA359513271

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995727G>T (hg19) ; chr5:g.36995625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995625G>T , CM000667.2:g.36995625G>T	GRCh38
NC_000005.9:g.36995727G>T , CM000667.1:g.36995727G>T	GRCh37
NC_000005.8:g.37031484G>T	NCBI36
NG_006987.1:g.123743G>T
NG_006987.2:g.123743G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3125G>T MANE Select	ENSP00000282516.8:p.Ser1042Ile
ENST00000652901.1:c.3125G>T	ENSP00000499536.1:p.Ser1042Ile
ENST00000282516.12:c.3125G>T	ENSP00000282516.8:p.Ser1042Ile
ENST00000448238.2:c.3125G>T	ENSP00000406266.2:p.Ser1042Ile
ENST00000503274.1:n.476G>T
ENST00000504430.5:n.2745G>T
ENST00000621733.1:c.1-68953G>T	ENSP00000480694.1:n.1-68953G>T
NM_015384.4:c.3125G>T	NP_056199.2:p.Ser1042Ile
NM_133433.3:c.3125G>T	NP_597677.2:p.Ser1042Ile
XM_005248280.2:c.3125G>T	XP_005248337.1:p.Ser1042Ile
XM_005248282.3:c.2381G>T	XP_005248339.2:p.Ser794Ile
XM_006714467.2:c.3125G>T	XP_006714530.1:p.Ser1042Ile
XM_006714468.1:c.3125G>T	XP_006714531.1:p.Ser1042Ile
XM_011514014.1:c.3122-5192G>T	XP_011512316.1:n.3122-5192G>T
XM_011514015.1:c.3125G>T	XP_011512317.1:p.Ser1042Ile
XM_005248280.3:c.3125G>T	XP_005248337.1:p.Ser1042Ile
XM_005248282.5:c.2465G>T	XP_005248339.3:p.Ser822Ile
XM_006714468.2:c.3125G>T	XP_006714531.1:p.Ser1042Ile
XM_017009329.1:c.3125G>T	XP_016864818.1:p.Ser1042Ile
XM_017009330.2:c.1508G>T	XP_016864819.1:p.Ser503Ile
XM_017009331.1:c.1499G>T	XP_016864820.1:p.Ser500Ile
NM_133433.4:c.3125G>T MANE Select	NP_597677.2:p.Ser1042Ile
NM_015384.5:c.3125G>T	NP_056199.2:p.Ser1042Ile