Canonical Allele Identifier: CA117058312

Gene: NIPBL

Linked Data

• dbSNP Id: rs779888924
• gnomAD v2: 5-37003320-A-G
• gnomAD v3: 5-37003218-A-G
• gnomAD v4: 5-37003218-A-G
• MyVariant Identifiers: chr5:g.37003320A>G (hg19) ; chr5:g.37003218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37003218A>G , CM000667.2:g.37003218A>G	GRCh38
NC_000005.9:g.37003320A>G , CM000667.1:g.37003320A>G	GRCh37
NC_000005.8:g.37039077A>G	NCBI36
NG_006987.1:g.131336A>G
NG_006987.2:g.131336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3769-43A>G MANE Select	ENSP00000282516.8:n.3769-43A>G
ENST00000652901.1:c.3769-43A>G	ENSP00000499536.1:n.3769-43A>G
ENST00000282516.12:c.3769-43A>G	ENSP00000282516.8:n.3769-43A>G
ENST00000448238.2:c.3769-43A>G	ENSP00000406266.2:n.3769-43A>G
ENST00000621733.1:c.1-61360A>G	ENSP00000480694.1:n.1-61360A>G
NM_015384.4:c.3769-43A>G	NP_056199.2:n.3769-43A>G
NM_133433.3:c.3769-43A>G	NP_597677.2:n.3769-43A>G
XM_005248280.2:c.3769-43A>G	XP_005248337.1:n.3769-43A>G
XM_005248282.3:c.3025-43A>G	XP_005248339.2:n.3025-43A>G
XM_006714467.2:c.3769-43A>G	XP_006714530.1:n.3769-43A>G
XM_006714468.1:c.3571-43A>G	XP_006714531.1:n.3571-43A>G
XM_011514014.1:c.3388-43A>G	XP_011512316.1:n.3388-43A>G
XM_011514015.1:c.3769-43A>G	XP_011512317.1:n.3769-43A>G
XM_005248280.3:c.3769-43A>G	XP_005248337.1:n.3769-43A>G
XM_005248282.5:c.3109-43A>G	XP_005248339.3:n.3109-43A>G
XM_006714468.2:c.3571-43A>G	XP_006714531.1:n.3571-43A>G
XM_017009329.1:c.3769-43A>G	XP_016864818.1:n.3769-43A>G
XM_017009330.2:c.2152-43A>G	XP_016864819.1:n.2152-43A>G
XM_017009331.1:c.2143-43A>G	XP_016864820.1:n.2143-43A>G
NM_133433.4:c.3769-43A>G MANE Select	NP_597677.2:n.3769-43A>G
NM_015384.5:c.3769-43A>G	NP_056199.2:n.3769-43A>G