Canonical Allele Identifier: CA359487743

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020880G>C (hg19) ; chr5:g.37020778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020778G>C , CM000667.2:g.37020778G>C	GRCh38
NC_000005.9:g.37020880G>C , CM000667.1:g.37020880G>C	GRCh37
NC_000005.8:g.37056637G>C	NCBI36
NG_006987.1:g.148896G>C
NG_006987.2:g.148896G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5229G>C MANE Select	ENSP00000282516.8:p.Met1743Ile
ENST00000652901.1:c.5229G>C	ENSP00000499536.1:p.Met1743Ile
ENST00000282516.12:c.5229G>C	ENSP00000282516.8:p.Met1743Ile
ENST00000448238.2:c.5229G>C	ENSP00000406266.2:p.Met1743Ile
ENST00000621733.1:c.1-43800G>C	ENSP00000480694.1:n.1-43800G>C
NM_015384.4:c.5229G>C	NP_056199.2:p.Met1743Ile
NM_133433.3:c.5229G>C	NP_597677.2:p.Met1743Ile
XM_005248280.2:c.5229G>C	XP_005248337.1:p.Met1743Ile
XM_005248282.3:c.4485G>C	XP_005248339.2:p.Met1495Ile
XM_006714467.2:c.5229G>C	XP_006714530.1:p.Met1743Ile
XM_006714468.1:c.5031G>C	XP_006714531.1:p.Met1677Ile
XM_011514014.1:c.4848G>C	XP_011512316.1:p.Met1616Ile
XM_011514015.1:c.5229G>C	XP_011512317.1:p.Met1743Ile
XM_005248280.3:c.5229G>C	XP_005248337.1:p.Met1743Ile
XM_005248282.5:c.4569G>C	XP_005248339.3:p.Met1523Ile
XM_006714468.2:c.5031G>C	XP_006714531.1:p.Met1677Ile
XM_017009329.1:c.5229G>C	XP_016864818.1:p.Met1743Ile
XM_017009330.2:c.3612G>C	XP_016864819.1:p.Met1204Ile
XM_017009331.1:c.3603G>C	XP_016864820.1:p.Met1201Ile
NM_133433.4:c.5229G>C MANE Select	NP_597677.2:p.Met1743Ile
NM_015384.5:c.5229G>C	NP_056199.2:p.Met1743Ile