Canonical Allele Identifier: CA359500295

Gene: NIPBL

Linked Data

• dbSNP Id: rs1338006777
• gnomAD v2: 5-36985554-C-G
• gnomAD v3: 5-36985452-C-G
• gnomAD v4: 5-36985452-C-G
• MyVariant Identifiers: chr5:g.36985554C>G (hg19) ; chr5:g.36985452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985452C>G , CM000667.2:g.36985452C>G	GRCh38
NC_000005.9:g.36985554C>G , CM000667.1:g.36985554C>G	GRCh37
NC_000005.8:g.37021311C>G	NCBI36
NG_006987.1:g.113570C>G
NG_006987.2:g.113570C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2272C>G MANE Select	ENSP00000282516.8:p.Pro758Ala
ENST00000652901.1:c.2272C>G	ENSP00000499536.1:p.Pro758Ala
ENST00000282516.12:c.2272C>G	ENSP00000282516.8:p.Pro758Ala
ENST00000448238.2:c.2272C>G	ENSP00000406266.2:p.Pro758Ala
ENST00000504430.5:n.1892C>G
ENST00000621733.1:c.1-79126C>G	ENSP00000480694.1:n.1-79126C>G
NM_015384.4:c.2272C>G	NP_056199.2:p.Pro758Ala
NM_133433.3:c.2272C>G	NP_597677.2:p.Pro758Ala
XM_005248280.2:c.2272C>G	XP_005248337.1:p.Pro758Ala
XM_005248282.3:c.1528C>G	XP_005248339.2:p.Pro510Ala
XM_006714467.2:c.2272C>G	XP_006714530.1:p.Pro758Ala
XM_006714468.1:c.2272C>G	XP_006714531.1:p.Pro758Ala
XM_011514014.1:c.2272C>G	XP_011512316.1:p.Pro758Ala
XM_011514015.1:c.2272C>G	XP_011512317.1:p.Pro758Ala
XM_005248280.3:c.2272C>G	XP_005248337.1:p.Pro758Ala
XM_005248282.5:c.1612C>G	XP_005248339.3:p.Pro538Ala
XM_006714468.2:c.2272C>G	XP_006714531.1:p.Pro758Ala
XM_017009329.1:c.2272C>G	XP_016864818.1:p.Pro758Ala
XM_017009330.2:c.655C>G	XP_016864819.1:p.Pro219Ala
XM_017009331.1:c.1495+9050C>G	XP_016864820.1:n.1495+9050C>G
NM_133433.4:c.2272C>G MANE Select	NP_597677.2:p.Pro758Ala
NM_015384.5:c.2272C>G	NP_056199.2:p.Pro758Ala