Canonical Allele Identifier: CA359504240
Community Standard Title: NM_133433.4(NIPBL):c.6387T>G (p.Asn2129Lys)
Gene: NIPBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045486T>G , CM000667.2:g.37045486T>G GRCh38
NC_000005.9:g.37045588T>G , CM000667.1:g.37045588T>G GRCh37
NC_000005.8:g.37081345T>G NCBI36
NG_006987.1:g.173604T>G
NG_006987.2:g.173604T>G

Transcript Alleles

HGVS Amino-acid Change
NM_133433.4:c.6387T>G MANE Select NP_597677.2:p.Asn2129Lys
ENST00000282516.13:c.6387T>G MANE Select ENSP00000282516.8:p.Asn2129Lys
NM_015384.4:c.6387T>G NP_056199.2:p.Asn2129Lys
NM_015384.5:c.6387T>G NP_056199.2:p.Asn2129Lys
NM_133433.3:c.6387T>G NP_597677.2:p.Asn2129Lys
ENST00000282516.12:c.6387T>G ENSP00000282516.8:p.Asn2129Lys
ENST00000448238.2:c.6387T>G ENSP00000406266.2:p.Asn2129Lys
ENST00000621733.1:c.1-19092T>G ENSP00000480694.1:n.1-19092T>G
ENST00000652901.1:c.6387T>G ENSP00000499536.1:p.Asn2129Lys
XM_005248280.2:c.6387T>G XP_005248337.1:p.Asn2129Lys
XM_005248280.3:c.6387T>G XP_005248337.1:p.Asn2129Lys
XM_005248282.3:c.5643T>G XP_005248339.2:p.Asn1881Lys
XM_005248282.5:c.5727T>G XP_005248339.3:p.Asn1909Lys
XM_006714467.2:c.6387T>G XP_006714530.1:p.Asn2129Lys
XM_006714468.1:c.6189T>G XP_006714531.1:p.Asn2063Lys
XM_006714468.2:c.6189T>G XP_006714531.1:p.Asn2063Lys
XM_011514014.1:c.6006T>G XP_011512316.1:p.Asn2002Lys
XM_011514015.1:c.6387T>G XP_011512317.1:p.Asn2129Lys
XM_017009329.1:c.6387T>G XP_016864818.1:p.Asn2129Lys
XM_017009330.2:c.4770T>G XP_016864819.1:p.Asn1590Lys
XM_017009331.1:c.4761T>G XP_016864820.1:p.Asn1587Lys
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