Canonical Allele Identifier: CA359520204

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37063950C>G (hg19) ; chr5:g.37063848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063848C>G , CM000667.2:g.37063848C>G	GRCh38
NC_000005.9:g.37063950C>G , CM000667.1:g.37063950C>G	GRCh37
NC_000005.8:g.37099707C>G	NCBI36
NG_006987.1:g.191966C>G
NG_006987.2:g.191966C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7919C>G MANE Select	ENSP00000282516.8:p.Ser2640Ter
ENST00000652901.1:c.7772C>G	ENSP00000499536.1:p.Ser2591Ter
ENST00000282516.12:c.7919C>G	ENSP00000282516.8:p.Ser2640Ter
ENST00000448238.2:c.7919C>G	ENSP00000406266.2:p.Ser2640Ter
ENST00000513819.1:c.322C>G	ENSP00000421504.1:p.Gln108Glu
ENST00000514335.1:n.1801C>G
ENST00000621733.1:c.1-730C>G	ENSP00000480694.1:n.1-730C>G
NM_015384.4:c.7919C>G	NP_056199.2:p.Ser2640Ter
NM_133433.3:c.7919C>G	NP_597677.2:p.Ser2640Ter
XM_005248280.2:c.7919C>G	XP_005248337.1:p.Ser2640Ter
XM_005248282.3:c.7175C>G	XP_005248339.2:p.Ser2392Ter
XM_006714467.2:c.7772C>G	XP_006714530.1:p.Ser2591Ter
XM_006714468.1:c.7721C>G	XP_006714531.1:p.Ser2574Ter
XM_011514014.1:c.7538C>G	XP_011512316.1:p.Ser2513Ter
XM_005248280.3:c.7919C>G	XP_005248337.1:p.Ser2640Ter
XM_005248282.5:c.7259C>G	XP_005248339.3:p.Ser2420Ter
XM_006714468.2:c.7721C>G	XP_006714531.1:p.Ser2574Ter
XM_017009329.1:c.7772C>G	XP_016864818.1:p.Ser2591Ter
XM_017009330.2:c.6302C>G	XP_016864819.1:p.Ser2101Ter
XM_017009331.1:c.6293C>G	XP_016864820.1:p.Ser2098Ter
NM_133433.4:c.7919C>G MANE Select	NP_597677.2:p.Ser2640Ter
NM_015384.5:c.7919C>G	NP_056199.2:p.Ser2640Ter