Canonical Allele Identifier: CA359519148

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061089T>C (hg19) ; chr5:g.37060987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060987T>C , CM000667.2:g.37060987T>C	GRCh38
NC_000005.9:g.37061089T>C , CM000667.1:g.37061089T>C	GRCh37
NC_000005.8:g.37096846T>C	NCBI36
NG_006987.1:g.189105T>C
NG_006987.2:g.189105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7829T>C MANE Select	ENSP00000282516.8:p.Val2610Ala
ENST00000652901.1:c.7682T>C	ENSP00000499536.1:p.Val2561Ala
ENST00000282516.12:c.7829T>C	ENSP00000282516.8:p.Val2610Ala
ENST00000448238.2:c.7829T>C	ENSP00000406266.2:p.Val2610Ala
ENST00000513819.1:c.263+1822T>C	ENSP00000421504.1:n.263+1822T>C
ENST00000514335.1:n.1711T>C
ENST00000621733.1:c.1-3591T>C	ENSP00000480694.1:n.1-3591T>C
NM_015384.4:c.7829T>C	NP_056199.2:p.Val2610Ala
NM_133433.3:c.7829T>C	NP_597677.2:p.Val2610Ala
XM_005248280.2:c.7829T>C	XP_005248337.1:p.Val2610Ala
XM_005248282.3:c.7085T>C	XP_005248339.2:p.Val2362Ala
XM_006714467.2:c.7682T>C	XP_006714530.1:p.Val2561Ala
XM_006714468.1:c.7631T>C	XP_006714531.1:p.Val2544Ala
XM_011514014.1:c.7448T>C	XP_011512316.1:p.Val2483Ala
XM_005248280.3:c.7829T>C	XP_005248337.1:p.Val2610Ala
XM_005248282.5:c.7169T>C	XP_005248339.3:p.Val2390Ala
XM_006714468.2:c.7631T>C	XP_006714531.1:p.Val2544Ala
XM_017009329.1:c.7682T>C	XP_016864818.1:p.Val2561Ala
XM_017009330.2:c.6212T>C	XP_016864819.1:p.Val2071Ala
XM_017009331.1:c.6203T>C	XP_016864820.1:p.Val2068Ala
NM_133433.4:c.7829T>C MANE Select	NP_597677.2:p.Val2610Ala
NM_015384.5:c.7829T>C	NP_056199.2:p.Val2610Ala