Canonical Allele Identifier: CA359482767

Gene: NIPBL

Linked Data

• dbSNP Id: rs1748957766
• MyVariant Identifiers: chr5:g.37016223C>A (hg19) ; chr5:g.37016121C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016121C>A , CM000667.2:g.37016121C>A	GRCh38
NC_000005.9:g.37016223C>A , CM000667.1:g.37016223C>A	GRCh37
NC_000005.8:g.37051980C>A	NCBI36
NG_006987.1:g.144239C>A
NG_006987.2:g.144239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4727C>A MANE Select	ENSP00000282516.8:p.Pro1576His
ENST00000652901.1:c.4727C>A	ENSP00000499536.1:p.Pro1576His
ENST00000282516.12:c.4727C>A	ENSP00000282516.8:p.Pro1576His
ENST00000448238.2:c.4727C>A	ENSP00000406266.2:p.Pro1576His
ENST00000621733.1:c.1-48457C>A	ENSP00000480694.1:n.1-48457C>A
NM_015384.4:c.4727C>A	NP_056199.2:p.Pro1576His
NM_133433.3:c.4727C>A	NP_597677.2:p.Pro1576His
XM_005248280.2:c.4727C>A	XP_005248337.1:p.Pro1576His
XM_005248282.3:c.3983C>A	XP_005248339.2:p.Pro1328His
XM_006714467.2:c.4727C>A	XP_006714530.1:p.Pro1576His
XM_006714468.1:c.4529C>A	XP_006714531.1:p.Pro1510His
XM_011514014.1:c.4346C>A	XP_011512316.1:p.Pro1449His
XM_011514015.1:c.4727C>A	XP_011512317.1:p.Pro1576His
XM_005248280.3:c.4727C>A	XP_005248337.1:p.Pro1576His
XM_005248282.5:c.4067C>A	XP_005248339.3:p.Pro1356His
XM_006714468.2:c.4529C>A	XP_006714531.1:p.Pro1510His
XM_017009329.1:c.4727C>A	XP_016864818.1:p.Pro1576His
XM_017009330.2:c.3110C>A	XP_016864819.1:p.Pro1037His
XM_017009331.1:c.3101C>A	XP_016864820.1:p.Pro1034His
NM_133433.4:c.4727C>A MANE Select	NP_597677.2:p.Pro1576His
NM_015384.5:c.4727C>A	NP_056199.2:p.Pro1576His