Canonical Allele Identifier: CA267534

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 99929
• ClinVar RCV Id: RCV000086378
• dbSNP Id: rs80358358
• MyVariant Identifiers: chr5:g.37010189G>T (hg19) ; chr5:g.37010087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010087G>T , CM000667.2:g.37010087G>T	GRCh38
NC_000005.9:g.37010189G>T , CM000667.1:g.37010189G>T	GRCh37
NC_000005.8:g.37045946G>T	NCBI36
NG_006987.1:g.138205G>T
NG_006987.2:g.138205G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.4422G>T MANE Select	ENSP00000282516.8:p.Arg1474Ser
ENST00000652901.1:c.4422G>T	ENSP00000499536.1:p.Arg1474Ser
ENST00000282516.12:c.4422G>T	ENSP00000282516.8:p.Arg1474Ser
ENST00000448238.2:c.4422G>T	ENSP00000406266.2:p.Arg1474Ser
ENST00000621733.1:c.1-54491G>T	ENSP00000480694.1:n.1-54491G>T
NM_015384.4:c.4422G>T	NP_056199.2:p.Arg1474Ser
NM_133433.3:c.4422G>T	NP_597677.2:p.Arg1474Ser
XM_005248280.2:c.4422G>T	XP_005248337.1:p.Arg1474Ser
XM_005248282.3:c.3678G>T	XP_005248339.2:p.Arg1226Ser
XM_006714467.2:c.4422G>T	XP_006714530.1:p.Arg1474Ser
XM_006714468.1:c.4224G>T	XP_006714531.1:p.Arg1408Ser
XM_011514014.1:c.4041G>T	XP_011512316.1:p.Arg1347Ser
XM_011514015.1:c.4422G>T	XP_011512317.1:p.Arg1474Ser
XM_005248280.3:c.4422G>T	XP_005248337.1:p.Arg1474Ser
XM_005248282.5:c.3762G>T	XP_005248339.3:p.Arg1254Ser
XM_006714468.2:c.4224G>T	XP_006714531.1:p.Arg1408Ser
XM_017009329.1:c.4422G>T	XP_016864818.1:p.Arg1474Ser
XM_017009330.2:c.2805G>T	XP_016864819.1:p.Arg935Ser
XM_017009331.1:c.2796G>T	XP_016864820.1:p.Arg932Ser
NM_133433.4:c.4422G>T MANE Select	NP_597677.2:p.Arg1474Ser
NM_015384.5:c.4422G>T	NP_056199.2:p.Arg1474Ser