Canonical Allele Identifier: CA359508999

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37049348T>C (hg19) ; chr5:g.37049246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049246T>C , CM000667.2:g.37049246T>C	GRCh38
NC_000005.9:g.37049348T>C , CM000667.1:g.37049348T>C	GRCh37
NC_000005.8:g.37085105T>C	NCBI36
NG_006987.1:g.177364T>C
NG_006987.2:g.177364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6899T>C MANE Select	ENSP00000282516.8:p.Phe2300Ser
ENST00000652901.1:c.6899T>C	ENSP00000499536.1:p.Phe2300Ser
ENST00000282516.12:c.6899T>C	ENSP00000282516.8:p.Phe2300Ser
ENST00000448238.2:c.6899T>C	ENSP00000406266.2:p.Phe2300Ser
ENST00000621733.1:c.1-15332T>C	ENSP00000480694.1:n.1-15332T>C
NM_015384.4:c.6899T>C	NP_056199.2:p.Phe2300Ser
NM_133433.3:c.6899T>C	NP_597677.2:p.Phe2300Ser
XM_005248280.2:c.6899T>C	XP_005248337.1:p.Phe2300Ser
XM_005248282.3:c.6155T>C	XP_005248339.2:p.Phe2052Ser
XM_006714467.2:c.6899T>C	XP_006714530.1:p.Phe2300Ser
XM_006714468.1:c.6701T>C	XP_006714531.1:p.Phe2234Ser
XM_011514014.1:c.6518T>C	XP_011512316.1:p.Phe2173Ser
XM_011514015.1:c.6899T>C	XP_011512317.1:p.Phe2300Ser
XM_005248280.3:c.6899T>C	XP_005248337.1:p.Phe2300Ser
XM_005248282.5:c.6239T>C	XP_005248339.3:p.Phe2080Ser
XM_006714468.2:c.6701T>C	XP_006714531.1:p.Phe2234Ser
XM_017009329.1:c.6899T>C	XP_016864818.1:p.Phe2300Ser
XM_017009330.2:c.5282T>C	XP_016864819.1:p.Phe1761Ser
XM_017009331.1:c.5273T>C	XP_016864820.1:p.Phe1758Ser
NM_133433.4:c.6899T>C MANE Select	NP_597677.2:p.Phe2300Ser
NM_015384.5:c.6899T>C	NP_056199.2:p.Phe2300Ser