Canonical Allele Identifier: CA359520191

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37063945G>C (hg19) ; chr5:g.37063843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063843G>C , CM000667.2:g.37063843G>C	GRCh38
NC_000005.9:g.37063945G>C , CM000667.1:g.37063945G>C	GRCh37
NC_000005.8:g.37099702G>C	NCBI36
NG_006987.1:g.191961G>C
NG_006987.2:g.191961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7914G>C MANE Select	ENSP00000282516.8:p.Glu2638Asp
ENST00000652901.1:c.7767G>C	ENSP00000499536.1:p.Glu2589Asp
ENST00000282516.12:c.7914G>C	ENSP00000282516.8:p.Glu2638Asp
ENST00000448238.2:c.7914G>C	ENSP00000406266.2:p.Glu2638Asp
ENST00000513819.1:c.317G>C	ENSP00000421504.1:p.Arg106Thr
ENST00000514335.1:n.1796G>C
ENST00000621733.1:c.1-735G>C	ENSP00000480694.1:n.1-735G>C
NM_015384.4:c.7914G>C	NP_056199.2:p.Glu2638Asp
NM_133433.3:c.7914G>C	NP_597677.2:p.Glu2638Asp
XM_005248280.2:c.7914G>C	XP_005248337.1:p.Glu2638Asp
XM_005248282.3:c.7170G>C	XP_005248339.2:p.Glu2390Asp
XM_006714467.2:c.7767G>C	XP_006714530.1:p.Glu2589Asp
XM_006714468.1:c.7716G>C	XP_006714531.1:p.Glu2572Asp
XM_011514014.1:c.7533G>C	XP_011512316.1:p.Glu2511Asp
XM_005248280.3:c.7914G>C	XP_005248337.1:p.Glu2638Asp
XM_005248282.5:c.7254G>C	XP_005248339.3:p.Glu2418Asp
XM_006714468.2:c.7716G>C	XP_006714531.1:p.Glu2572Asp
XM_017009329.1:c.7767G>C	XP_016864818.1:p.Glu2589Asp
XM_017009330.2:c.6297G>C	XP_016864819.1:p.Glu2099Asp
XM_017009331.1:c.6288G>C	XP_016864820.1:p.Glu2096Asp
NM_133433.4:c.7914G>C MANE Select	NP_597677.2:p.Glu2638Asp
NM_015384.5:c.7914G>C	NP_056199.2:p.Glu2638Asp