Canonical Allele Identifier: CA359488182

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2431785
• ClinVar RCV Id: RCV003225878
• MyVariant Identifiers: chr5:g.36976504G>A (hg19) ; chr5:g.36976402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976402G>A , CM000667.2:g.36976402G>A	GRCh38
NC_000005.9:g.36976504G>A , CM000667.1:g.36976504G>A	GRCh37
NC_000005.8:g.37012261G>A	NCBI36
NG_006987.1:g.104520G>A
NG_006987.2:g.104520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1495G>A MANE Select	ENSP00000282516.8:p.Asp499Asn
ENST00000652901.1:c.1495G>A	ENSP00000499536.1:p.Asp499Asn
ENST00000282516.12:c.1495G>A	ENSP00000282516.8:p.Asp499Asn
ENST00000448238.2:c.1495G>A	ENSP00000406266.2:p.Asp499Asn
ENST00000504430.5:n.1115G>A
ENST00000621733.1:c.1-88176G>A	ENSP00000480694.1:n.1-88176G>A
NM_015384.4:c.1495G>A	NP_056199.2:p.Asp499Asn
NM_133433.3:c.1495G>A	NP_597677.2:p.Asp499Asn
XM_005248280.2:c.1495G>A	XP_005248337.1:p.Asp499Asn
XM_005248282.3:c.751G>A	XP_005248339.2:p.Asp251Asn
XM_006714467.2:c.1495G>A	XP_006714530.1:p.Asp499Asn
XM_006714468.1:c.1495G>A	XP_006714531.1:p.Asp499Asn
XM_011514014.1:c.1495G>A	XP_011512316.1:p.Asp499Asn
XM_011514015.1:c.1495G>A	XP_011512317.1:p.Asp499Asn
XM_005248280.3:c.1495G>A	XP_005248337.1:p.Asp499Asn
XM_005248282.5:c.835G>A	XP_005248339.3:p.Asp279Asn
XM_006714468.2:c.1495G>A	XP_006714531.1:p.Asp499Asn
XM_017009329.1:c.1495G>A	XP_016864818.1:p.Asp499Asn
XM_017009331.1:c.1495G>A	XP_016864820.1:p.Gly499Ser
NM_133433.4:c.1495G>A MANE Select	NP_597677.2:p.Asp499Asn
NM_015384.5:c.1495G>A	NP_056199.2:p.Asp499Asn