Canonical Allele Identifier: CA359504920

Gene: NIPBL

Linked Data

• dbSNP Id: rs1231874358
• gnomAD v2: 5-37045687-A-T
• MyVariant Identifiers: chr5:g.37045687A>T (hg19) ; chr5:g.37045585A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045585A>T , CM000667.2:g.37045585A>T	GRCh38
NC_000005.9:g.37045687A>T , CM000667.1:g.37045687A>T	GRCh37
NC_000005.8:g.37081444A>T	NCBI36
NG_006987.1:g.173703A>T
NG_006987.2:g.173703A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6486A>T MANE Select	ENSP00000282516.8:p.Lys2162Asn
ENST00000652901.1:c.6486A>T	ENSP00000499536.1:p.Lys2162Asn
ENST00000282516.12:c.6486A>T	ENSP00000282516.8:p.Lys2162Asn
ENST00000448238.2:c.6486A>T	ENSP00000406266.2:p.Lys2162Asn
ENST00000621733.1:c.1-18993A>T	ENSP00000480694.1:n.1-18993A>T
NM_015384.4:c.6486A>T	NP_056199.2:p.Lys2162Asn
NM_133433.3:c.6486A>T	NP_597677.2:p.Lys2162Asn
XM_005248280.2:c.6486A>T	XP_005248337.1:p.Lys2162Asn
XM_005248282.3:c.5742A>T	XP_005248339.2:p.Lys1914Asn
XM_006714467.2:c.6486A>T	XP_006714530.1:p.Lys2162Asn
XM_006714468.1:c.6288A>T	XP_006714531.1:p.Lys2096Asn
XM_011514014.1:c.6105A>T	XP_011512316.1:p.Lys2035Asn
XM_011514015.1:c.6486A>T	XP_011512317.1:p.Lys2162Asn
XM_005248280.3:c.6486A>T	XP_005248337.1:p.Lys2162Asn
XM_005248282.5:c.5826A>T	XP_005248339.3:p.Lys1942Asn
XM_006714468.2:c.6288A>T	XP_006714531.1:p.Lys2096Asn
XM_017009329.1:c.6486A>T	XP_016864818.1:p.Lys2162Asn
XM_017009330.2:c.4869A>T	XP_016864819.1:p.Lys1623Asn
XM_017009331.1:c.4860A>T	XP_016864820.1:p.Lys1620Asn
NM_133433.4:c.6486A>T MANE Select	NP_597677.2:p.Lys2162Asn
NM_015384.5:c.6486A>T	NP_056199.2:p.Lys2162Asn