Canonical Allele Identifier: CA359511046

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37052473A>T (hg19) ; chr5:g.37052371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052371A>T , CM000667.2:g.37052371A>T	GRCh38
NC_000005.9:g.37052473A>T , CM000667.1:g.37052473A>T	GRCh37
NC_000005.8:g.37088230A>T	NCBI36
NG_006987.1:g.180489A>T
NG_006987.2:g.180489A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7068A>T MANE Select	ENSP00000282516.8:p.Lys2356Asn
ENST00000652901.1:c.7068A>T	ENSP00000499536.1:p.Lys2356Asn
ENST00000282516.12:c.7068A>T	ENSP00000282516.8:p.Lys2356Asn
ENST00000448238.2:c.7068A>T	ENSP00000406266.2:p.Lys2356Asn
ENST00000514335.1:n.950A>T
ENST00000621733.1:c.1-12207A>T	ENSP00000480694.1:n.1-12207A>T
NM_015384.4:c.7068A>T	NP_056199.2:p.Lys2356Asn
NM_133433.3:c.7068A>T	NP_597677.2:p.Lys2356Asn
XM_005248280.2:c.7068A>T	XP_005248337.1:p.Lys2356Asn
XM_005248282.3:c.6324A>T	XP_005248339.2:p.Lys2108Asn
XM_006714467.2:c.7068A>T	XP_006714530.1:p.Lys2356Asn
XM_006714468.1:c.6870A>T	XP_006714531.1:p.Lys2290Asn
XM_011514014.1:c.6687A>T	XP_011512316.1:p.Lys2229Asn
XM_011514015.1:c.7068A>T	XP_011512317.1:p.Lys2356Asn
XM_005248280.3:c.7068A>T	XP_005248337.1:p.Lys2356Asn
XM_005248282.5:c.6408A>T	XP_005248339.3:p.Lys2136Asn
XM_006714468.2:c.6870A>T	XP_006714531.1:p.Lys2290Asn
XM_017009329.1:c.7068A>T	XP_016864818.1:p.Lys2356Asn
XM_017009330.2:c.5451A>T	XP_016864819.1:p.Lys1817Asn
XM_017009331.1:c.5442A>T	XP_016864820.1:p.Lys1814Asn
NM_133433.4:c.7068A>T MANE Select	NP_597677.2:p.Lys2356Asn
NM_015384.5:c.7068A>T	NP_056199.2:p.Lys2356Asn