Canonical Allele Identifier: CA359504950

Gene: NIPBL

Linked Data

• dbSNP Id: rs1256015535
• gnomAD v2: 5-37045692-A-C
• MyVariant Identifiers: chr5:g.37045692A>C (hg19) ; chr5:g.37045590A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045590A>C , CM000667.2:g.37045590A>C	GRCh38
NC_000005.9:g.37045692A>C , CM000667.1:g.37045692A>C	GRCh37
NC_000005.8:g.37081449A>C	NCBI36
NG_006987.1:g.173708A>C
NG_006987.2:g.173708A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6491A>C MANE Select	ENSP00000282516.8:p.Asn2164Thr
ENST00000652901.1:c.6491A>C	ENSP00000499536.1:p.Asn2164Thr
ENST00000282516.12:c.6491A>C	ENSP00000282516.8:p.Asn2164Thr
ENST00000448238.2:c.6491A>C	ENSP00000406266.2:p.Asn2164Thr
ENST00000621733.1:c.1-18988A>C	ENSP00000480694.1:n.1-18988A>C
NM_015384.4:c.6491A>C	NP_056199.2:p.Asn2164Thr
NM_133433.3:c.6491A>C	NP_597677.2:p.Asn2164Thr
XM_005248280.2:c.6491A>C	XP_005248337.1:p.Asn2164Thr
XM_005248282.3:c.5747A>C	XP_005248339.2:p.Asn1916Thr
XM_006714467.2:c.6491A>C	XP_006714530.1:p.Asn2164Thr
XM_006714468.1:c.6293A>C	XP_006714531.1:p.Asn2098Thr
XM_011514014.1:c.6110A>C	XP_011512316.1:p.Asn2037Thr
XM_011514015.1:c.6491A>C	XP_011512317.1:p.Asn2164Thr
XM_005248280.3:c.6491A>C	XP_005248337.1:p.Asn2164Thr
XM_005248282.5:c.5831A>C	XP_005248339.3:p.Asn1944Thr
XM_006714468.2:c.6293A>C	XP_006714531.1:p.Asn2098Thr
XM_017009329.1:c.6491A>C	XP_016864818.1:p.Asn2164Thr
XM_017009330.2:c.4874A>C	XP_016864819.1:p.Asn1625Thr
XM_017009331.1:c.4865A>C	XP_016864820.1:p.Asn1622Thr
NM_133433.4:c.6491A>C MANE Select	NP_597677.2:p.Asn2164Thr
NM_015384.5:c.6491A>C	NP_056199.2:p.Asn2164Thr