Canonical Allele Identifier: CA359518993

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061077T>A (hg19) ; chr5:g.37060975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060975T>A , CM000667.2:g.37060975T>A	GRCh38
NC_000005.9:g.37061077T>A , CM000667.1:g.37061077T>A	GRCh37
NC_000005.8:g.37096834T>A	NCBI36
NG_006987.1:g.189093T>A
NG_006987.2:g.189093T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7817T>A MANE Select	ENSP00000282516.8:p.Ile2606Asn
ENST00000652901.1:c.7670T>A	ENSP00000499536.1:p.Ile2557Asn
ENST00000282516.12:c.7817T>A	ENSP00000282516.8:p.Ile2606Asn
ENST00000448238.2:c.7817T>A	ENSP00000406266.2:p.Ile2606Asn
ENST00000513819.1:c.263+1810T>A	ENSP00000421504.1:n.263+1810T>A
ENST00000514335.1:n.1699T>A
ENST00000621733.1:c.1-3603T>A	ENSP00000480694.1:n.1-3603T>A
NM_015384.4:c.7817T>A	NP_056199.2:p.Ile2606Asn
NM_133433.3:c.7817T>A	NP_597677.2:p.Ile2606Asn
XM_005248280.2:c.7817T>A	XP_005248337.1:p.Ile2606Asn
XM_005248282.3:c.7073T>A	XP_005248339.2:p.Ile2358Asn
XM_006714467.2:c.7670T>A	XP_006714530.1:p.Ile2557Asn
XM_006714468.1:c.7619T>A	XP_006714531.1:p.Ile2540Asn
XM_011514014.1:c.7436T>A	XP_011512316.1:p.Ile2479Asn
XM_005248280.3:c.7817T>A	XP_005248337.1:p.Ile2606Asn
XM_005248282.5:c.7157T>A	XP_005248339.3:p.Ile2386Asn
XM_006714468.2:c.7619T>A	XP_006714531.1:p.Ile2540Asn
XM_017009329.1:c.7670T>A	XP_016864818.1:p.Ile2557Asn
XM_017009330.2:c.6200T>A	XP_016864819.1:p.Ile2067Asn
XM_017009331.1:c.6191T>A	XP_016864820.1:p.Ile2064Asn
NM_133433.4:c.7817T>A MANE Select	NP_597677.2:p.Ile2606Asn
NM_015384.5:c.7817T>A	NP_056199.2:p.Ile2606Asn