Canonical Allele Identifier: CA359487530

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020762T>C (hg19) ; chr5:g.37020660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020660T>C , CM000667.2:g.37020660T>C	GRCh38
NC_000005.9:g.37020762T>C , CM000667.1:g.37020762T>C	GRCh37
NC_000005.8:g.37056519T>C	NCBI36
NG_006987.1:g.148778T>C
NG_006987.2:g.148778T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5212T>C MANE Select	ENSP00000282516.8:p.Phe1738Leu
ENST00000652901.1:c.5212T>C	ENSP00000499536.1:p.Phe1738Leu
ENST00000282516.12:c.5212T>C	ENSP00000282516.8:p.Phe1738Leu
ENST00000448238.2:c.5212T>C	ENSP00000406266.2:p.Phe1738Leu
ENST00000621733.1:c.1-43918T>C	ENSP00000480694.1:n.1-43918T>C
NM_015384.4:c.5212T>C	NP_056199.2:p.Phe1738Leu
NM_133433.3:c.5212T>C	NP_597677.2:p.Phe1738Leu
XM_005248280.2:c.5212T>C	XP_005248337.1:p.Phe1738Leu
XM_005248282.3:c.4468T>C	XP_005248339.2:p.Phe1490Leu
XM_006714467.2:c.5212T>C	XP_006714530.1:p.Phe1738Leu
XM_006714468.1:c.5014T>C	XP_006714531.1:p.Phe1672Leu
XM_011514014.1:c.4831T>C	XP_011512316.1:p.Phe1611Leu
XM_011514015.1:c.5212T>C	XP_011512317.1:p.Phe1738Leu
XM_005248280.3:c.5212T>C	XP_005248337.1:p.Phe1738Leu
XM_005248282.5:c.4552T>C	XP_005248339.3:p.Phe1518Leu
XM_006714468.2:c.5014T>C	XP_006714531.1:p.Phe1672Leu
XM_017009329.1:c.5212T>C	XP_016864818.1:p.Phe1738Leu
XM_017009330.2:c.3595T>C	XP_016864819.1:p.Phe1199Leu
XM_017009331.1:c.3586T>C	XP_016864820.1:p.Phe1196Leu
NM_133433.4:c.5212T>C MANE Select	NP_597677.2:p.Phe1738Leu
NM_015384.5:c.5212T>C	NP_056199.2:p.Phe1738Leu