Canonical Allele Identifier: CA117051439

Gene: NIPBL

Linked Data

• dbSNP Id: rs976984370
• gnomAD v2: 5-37052461-A-T
• gnomAD v3: 5-37052359-A-T
• gnomAD v4: 5-37052359-A-T
• MyVariant Identifiers: chr5:g.37052461A>T (hg19) ; chr5:g.37052359A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052359A>T , CM000667.2:g.37052359A>T	GRCh38
NC_000005.9:g.37052461A>T , CM000667.1:g.37052461A>T	GRCh37
NC_000005.8:g.37088218A>T	NCBI36
NG_006987.1:g.180477A>T
NG_006987.2:g.180477A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7063-7A>T MANE Select	ENSP00000282516.8:n.7063-7A>T
ENST00000652901.1:c.7063-7A>T	ENSP00000499536.1:n.7063-7A>T
ENST00000282516.12:c.7063-7A>T	ENSP00000282516.8:n.7063-7A>T
ENST00000448238.2:c.7063-7A>T	ENSP00000406266.2:n.7063-7A>T
ENST00000514335.1:n.945-7A>T
ENST00000621733.1:c.1-12219A>T	ENSP00000480694.1:n.1-12219A>T
NM_015384.4:c.7063-7A>T	NP_056199.2:n.7063-7A>T
NM_133433.3:c.7063-7A>T	NP_597677.2:n.7063-7A>T
XM_005248280.2:c.7063-7A>T	XP_005248337.1:n.7063-7A>T
XM_005248282.3:c.6319-7A>T	XP_005248339.2:n.6319-7A>T
XM_006714467.2:c.7063-7A>T	XP_006714530.1:n.7063-7A>T
XM_006714468.1:c.6865-7A>T	XP_006714531.1:n.6865-7A>T
XM_011514014.1:c.6682-7A>T	XP_011512316.1:n.6682-7A>T
XM_011514015.1:c.7063-7A>T	XP_011512317.1:n.7063-7A>T
XM_005248280.3:c.7063-7A>T	XP_005248337.1:n.7063-7A>T
XM_005248282.5:c.6403-7A>T	XP_005248339.3:n.6403-7A>T
XM_006714468.2:c.6865-7A>T	XP_006714531.1:n.6865-7A>T
XM_017009329.1:c.7063-7A>T	XP_016864818.1:n.7063-7A>T
XM_017009330.2:c.5446-7A>T	XP_016864819.1:n.5446-7A>T
XM_017009331.1:c.5437-7A>T	XP_016864820.1:n.5437-7A>T
NM_133433.4:c.7063-7A>T MANE Select	NP_597677.2:n.7063-7A>T
NM_015384.5:c.7063-7A>T	NP_056199.2:n.7063-7A>T