Canonical Allele Identifier: CA359518278

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37060959T>G (hg19) ; chr5:g.37060857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060857T>G , CM000667.2:g.37060857T>G	GRCh38
NC_000005.9:g.37060959T>G , CM000667.1:g.37060959T>G	GRCh37
NC_000005.8:g.37096716T>G	NCBI36
NG_006987.1:g.188975T>G
NG_006987.2:g.188975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7699T>G MANE Select	ENSP00000282516.8:p.Tyr2567Asp
ENST00000652901.1:c.7552T>G	ENSP00000499536.1:p.Tyr2518Asp
ENST00000282516.12:c.7699T>G	ENSP00000282516.8:p.Tyr2567Asp
ENST00000448238.2:c.7699T>G	ENSP00000406266.2:p.Tyr2567Asp
ENST00000513819.1:c.263+1692T>G	ENSP00000421504.1:n.263+1692T>G
ENST00000514335.1:n.1581T>G
ENST00000621733.1:c.1-3721T>G	ENSP00000480694.1:n.1-3721T>G
NM_015384.4:c.7699T>G	NP_056199.2:p.Tyr2567Asp
NM_133433.3:c.7699T>G	NP_597677.2:p.Tyr2567Asp
XM_005248280.2:c.7699T>G	XP_005248337.1:p.Tyr2567Asp
XM_005248282.3:c.6955T>G	XP_005248339.2:p.Tyr2319Asp
XM_006714467.2:c.7552T>G	XP_006714530.1:p.Tyr2518Asp
XM_006714468.1:c.7501T>G	XP_006714531.1:p.Tyr2501Asp
XM_011514014.1:c.7318T>G	XP_011512316.1:p.Tyr2440Asp
XM_011514015.1:c.*11T>G	XP_011512317.1:n.*11T>G
XM_005248280.3:c.7699T>G	XP_005248337.1:p.Tyr2567Asp
XM_005248282.5:c.7039T>G	XP_005248339.3:p.Tyr2347Asp
XM_006714468.2:c.7501T>G	XP_006714531.1:p.Tyr2501Asp
XM_017009329.1:c.7552T>G	XP_016864818.1:p.Tyr2518Asp
XM_017009330.2:c.6082T>G	XP_016864819.1:p.Tyr2028Asp
XM_017009331.1:c.6073T>G	XP_016864820.1:p.Tyr2025Asp
NM_133433.4:c.7699T>G MANE Select	NP_597677.2:p.Tyr2567Asp
NM_015384.5:c.7699T>G	NP_056199.2:p.Tyr2567Asp