Canonical Allele Identifier: CA559022279

Gene: NIPBL

Linked Data

• dbSNP Id: rs1300538771
• gnomAD v2: 5-37051791-A-C
• gnomAD v3: 5-37051689-A-C
• gnomAD v4: 5-37051689-A-C
• MyVariant Identifiers: chr5:g.37051791A>C (hg19) ; chr5:g.37051689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051689A>C , CM000667.2:g.37051689A>C	GRCh38
NC_000005.9:g.37051791A>C , CM000667.1:g.37051791A>C	GRCh37
NC_000005.8:g.37087548A>C	NCBI36
NG_006987.1:g.179807A>C
NG_006987.2:g.179807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6955-90A>C MANE Select	ENSP00000282516.8:n.6955-90A>C
ENST00000652901.1:c.6955-90A>C	ENSP00000499536.1:n.6955-90A>C
ENST00000282516.12:c.6955-90A>C	ENSP00000282516.8:n.6955-90A>C
ENST00000448238.2:c.6955-90A>C	ENSP00000406266.2:n.6955-90A>C
ENST00000514335.1:n.747A>C
ENST00000621733.1:c.1-12889A>C	ENSP00000480694.1:n.1-12889A>C
NM_015384.4:c.6955-90A>C	NP_056199.2:n.6955-90A>C
NM_133433.3:c.6955-90A>C	NP_597677.2:n.6955-90A>C
XM_005248280.2:c.6955-90A>C	XP_005248337.1:n.6955-90A>C
XM_005248282.3:c.6211-90A>C	XP_005248339.2:n.6211-90A>C
XM_006714467.2:c.6955-90A>C	XP_006714530.1:n.6955-90A>C
XM_006714468.1:c.6757-90A>C	XP_006714531.1:n.6757-90A>C
XM_011514014.1:c.6574-90A>C	XP_011512316.1:n.6574-90A>C
XM_011514015.1:c.6955-90A>C	XP_011512317.1:n.6955-90A>C
XM_005248280.3:c.6955-90A>C	XP_005248337.1:n.6955-90A>C
XM_005248282.5:c.6295-90A>C	XP_005248339.3:n.6295-90A>C
XM_006714468.2:c.6757-90A>C	XP_006714531.1:n.6757-90A>C
XM_017009329.1:c.6955-90A>C	XP_016864818.1:n.6955-90A>C
XM_017009330.2:c.5338-90A>C	XP_016864819.1:n.5338-90A>C
XM_017009331.1:c.5329-90A>C	XP_016864820.1:n.5329-90A>C
NM_133433.4:c.6955-90A>C MANE Select	NP_597677.2:n.6955-90A>C
NM_015384.5:c.6955-90A>C	NP_056199.2:n.6955-90A>C