Canonical Allele Identifier: CA359504588

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 988103
• ClinVar RCV Id: RCV001328046
• dbSNP Id: rs1329800608
• gnomAD v2: 5-36986023-C-G
• gnomAD v3: 5-36985921-C-G
• gnomAD v4: 5-36985921-C-G
• MyVariant Identifiers: chr5:g.36986023C>G (hg19) ; chr5:g.36985921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985921C>G , CM000667.2:g.36985921C>G	GRCh38
NC_000005.9:g.36986023C>G , CM000667.1:g.36986023C>G	GRCh37
NC_000005.8:g.37021780C>G	NCBI36
NG_006987.1:g.114039C>G
NG_006987.2:g.114039C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2741C>G MANE Select	ENSP00000282516.8:p.Thr914Ser
ENST00000652901.1:c.2741C>G	ENSP00000499536.1:p.Thr914Ser
ENST00000282516.12:c.2741C>G	ENSP00000282516.8:p.Thr914Ser
ENST00000448238.2:c.2741C>G	ENSP00000406266.2:p.Thr914Ser
ENST00000504430.5:n.2361C>G
ENST00000621733.1:c.1-78657C>G	ENSP00000480694.1:n.1-78657C>G
NM_015384.4:c.2741C>G	NP_056199.2:p.Thr914Ser
NM_133433.3:c.2741C>G	NP_597677.2:p.Thr914Ser
XM_005248280.2:c.2741C>G	XP_005248337.1:p.Thr914Ser
XM_005248282.3:c.1997C>G	XP_005248339.2:p.Thr666Ser
XM_006714467.2:c.2741C>G	XP_006714530.1:p.Thr914Ser
XM_006714468.1:c.2741C>G	XP_006714531.1:p.Thr914Ser
XM_011514014.1:c.2741C>G	XP_011512316.1:p.Thr914Ser
XM_011514015.1:c.2741C>G	XP_011512317.1:p.Thr914Ser
XM_005248280.3:c.2741C>G	XP_005248337.1:p.Thr914Ser
XM_005248282.5:c.2081C>G	XP_005248339.3:p.Thr694Ser
XM_006714468.2:c.2741C>G	XP_006714531.1:p.Thr914Ser
XM_017009329.1:c.2741C>G	XP_016864818.1:p.Thr914Ser
XM_017009330.2:c.1124C>G	XP_016864819.1:p.Thr375Ser
XM_017009331.1:c.1495+9519C>G	XP_016864820.1:n.1495+9519C>G
NM_133433.4:c.2741C>G MANE Select	NP_597677.2:p.Thr914Ser
NM_015384.5:c.2741C>G	NP_056199.2:p.Thr914Ser