Canonical Allele Identifier: CA359487427

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020746A>C (hg19) ; chr5:g.37020644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020644A>C , CM000667.2:g.37020644A>C	GRCh38
NC_000005.9:g.37020746A>C , CM000667.1:g.37020746A>C	GRCh37
NC_000005.8:g.37056503A>C	NCBI36
NG_006987.1:g.148762A>C
NG_006987.2:g.148762A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5196A>C MANE Select	ENSP00000282516.8:p.Lys1732Asn
ENST00000652901.1:c.5196A>C	ENSP00000499536.1:p.Lys1732Asn
ENST00000282516.12:c.5196A>C	ENSP00000282516.8:p.Lys1732Asn
ENST00000448238.2:c.5196A>C	ENSP00000406266.2:p.Lys1732Asn
ENST00000621733.1:c.1-43934A>C	ENSP00000480694.1:n.1-43934A>C
NM_015384.4:c.5196A>C	NP_056199.2:p.Lys1732Asn
NM_133433.3:c.5196A>C	NP_597677.2:p.Lys1732Asn
XM_005248280.2:c.5196A>C	XP_005248337.1:p.Lys1732Asn
XM_005248282.3:c.4452A>C	XP_005248339.2:p.Lys1484Asn
XM_006714467.2:c.5196A>C	XP_006714530.1:p.Lys1732Asn
XM_006714468.1:c.4998A>C	XP_006714531.1:p.Lys1666Asn
XM_011514014.1:c.4815A>C	XP_011512316.1:p.Lys1605Asn
XM_011514015.1:c.5196A>C	XP_011512317.1:p.Lys1732Asn
XM_005248280.3:c.5196A>C	XP_005248337.1:p.Lys1732Asn
XM_005248282.5:c.4536A>C	XP_005248339.3:p.Lys1512Asn
XM_006714468.2:c.4998A>C	XP_006714531.1:p.Lys1666Asn
XM_017009329.1:c.5196A>C	XP_016864818.1:p.Lys1732Asn
XM_017009330.2:c.3579A>C	XP_016864819.1:p.Lys1193Asn
XM_017009331.1:c.3570A>C	XP_016864820.1:p.Lys1190Asn
NM_133433.4:c.5196A>C MANE Select	NP_597677.2:p.Lys1732Asn
NM_015384.5:c.5196A>C	NP_056199.2:p.Lys1732Asn