Canonical Allele Identifier: CA359511022

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37052471A>T (hg19) ; chr5:g.37052369A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052369A>T , CM000667.2:g.37052369A>T	GRCh38
NC_000005.9:g.37052471A>T , CM000667.1:g.37052471A>T	GRCh37
NC_000005.8:g.37088228A>T	NCBI36
NG_006987.1:g.180487A>T
NG_006987.2:g.180487A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7066A>T MANE Select	ENSP00000282516.8:p.Lys2356Ter
ENST00000652901.1:c.7066A>T	ENSP00000499536.1:p.Lys2356Ter
ENST00000282516.12:c.7066A>T	ENSP00000282516.8:p.Lys2356Ter
ENST00000448238.2:c.7066A>T	ENSP00000406266.2:p.Lys2356Ter
ENST00000514335.1:n.948A>T
ENST00000621733.1:c.1-12209A>T	ENSP00000480694.1:n.1-12209A>T
NM_015384.4:c.7066A>T	NP_056199.2:p.Lys2356Ter
NM_133433.3:c.7066A>T	NP_597677.2:p.Lys2356Ter
XM_005248280.2:c.7066A>T	XP_005248337.1:p.Lys2356Ter
XM_005248282.3:c.6322A>T	XP_005248339.2:p.Lys2108Ter
XM_006714467.2:c.7066A>T	XP_006714530.1:p.Lys2356Ter
XM_006714468.1:c.6868A>T	XP_006714531.1:p.Lys2290Ter
XM_011514014.1:c.6685A>T	XP_011512316.1:p.Lys2229Ter
XM_011514015.1:c.7066A>T	XP_011512317.1:p.Lys2356Ter
XM_005248280.3:c.7066A>T	XP_005248337.1:p.Lys2356Ter
XM_005248282.5:c.6406A>T	XP_005248339.3:p.Lys2136Ter
XM_006714468.2:c.6868A>T	XP_006714531.1:p.Lys2290Ter
XM_017009329.1:c.7066A>T	XP_016864818.1:p.Lys2356Ter
XM_017009330.2:c.5449A>T	XP_016864819.1:p.Lys1817Ter
XM_017009331.1:c.5440A>T	XP_016864820.1:p.Lys1814Ter
NM_133433.4:c.7066A>T MANE Select	NP_597677.2:p.Lys2356Ter
NM_015384.5:c.7066A>T	NP_056199.2:p.Lys2356Ter