Canonical Allele Identifier: CA443916193

Gene: NIPBL

Linked Data

• dbSNP Id: rs1347129477
• gnomAD v2: 5-37060952-T-A
• MyVariant Identifiers: chr5:g.37060952T>A (hg19) ; chr5:g.37060850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060850T>A , CM000667.2:g.37060850T>A	GRCh38
NC_000005.9:g.37060952T>A , CM000667.1:g.37060952T>A	GRCh37
NC_000005.8:g.37096709T>A	NCBI36
NG_006987.1:g.188968T>A
NG_006987.2:g.188968T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7692T>A MANE Select	ENSP00000282516.8:p.Ile2564=
ENST00000652901.1:c.7545T>A	ENSP00000499536.1:p.Ile2515=
ENST00000282516.12:c.7692T>A	ENSP00000282516.8:p.Ile2564=
ENST00000448238.2:c.7692T>A	ENSP00000406266.2:p.Ile2564=
ENST00000513819.1:c.263+1685T>A	ENSP00000421504.1:n.263+1685T>A
ENST00000514335.1:n.1574T>A
ENST00000621733.1:c.1-3728T>A	ENSP00000480694.1:n.1-3728T>A
NM_015384.4:c.7692T>A	NP_056199.2:p.Ile2564=
NM_133433.3:c.7692T>A	NP_597677.2:p.Ile2564=
XM_005248280.2:c.7692T>A	XP_005248337.1:p.Ile2564=
XM_005248282.3:c.6948T>A	XP_005248339.2:p.Ile2316=
XM_006714467.2:c.7545T>A	XP_006714530.1:p.Ile2515=
XM_006714468.1:c.7494T>A	XP_006714531.1:p.Ile2498=
XM_011514014.1:c.7311T>A	XP_011512316.1:p.Ile2437=
XM_011514015.1:c.*4T>A	XP_011512317.1:n.*4T>A
XM_005248280.3:c.7692T>A	XP_005248337.1:p.Ile2564=
XM_005248282.5:c.7032T>A	XP_005248339.3:p.Ile2344=
XM_006714468.2:c.7494T>A	XP_006714531.1:p.Ile2498=
XM_017009329.1:c.7545T>A	XP_016864818.1:p.Ile2515=
XM_017009330.2:c.6075T>A	XP_016864819.1:p.Ile2025=
XM_017009331.1:c.6066T>A	XP_016864820.1:p.Ile2022=
NM_133433.4:c.7692T>A MANE Select	NP_597677.2:p.Ile2564=
NM_015384.5:c.7692T>A	NP_056199.2:p.Ile2564=