Canonical Allele Identifier: CA359508881

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37049296C>T (hg19) ; chr5:g.37049194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049194C>T , CM000667.2:g.37049194C>T	GRCh38
NC_000005.9:g.37049296C>T , CM000667.1:g.37049296C>T	GRCh37
NC_000005.8:g.37085053C>T	NCBI36
NG_006987.1:g.177312C>T
NG_006987.2:g.177312C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6847C>T MANE Select	ENSP00000282516.8:p.Leu2283Phe
ENST00000652901.1:c.6847C>T	ENSP00000499536.1:p.Leu2283Phe
ENST00000282516.12:c.6847C>T	ENSP00000282516.8:p.Leu2283Phe
ENST00000448238.2:c.6847C>T	ENSP00000406266.2:p.Leu2283Phe
ENST00000621733.1:c.1-15384C>T	ENSP00000480694.1:n.1-15384C>T
NM_015384.4:c.6847C>T	NP_056199.2:p.Leu2283Phe
NM_133433.3:c.6847C>T	NP_597677.2:p.Leu2283Phe
XM_005248280.2:c.6847C>T	XP_005248337.1:p.Leu2283Phe
XM_005248282.3:c.6103C>T	XP_005248339.2:p.Leu2035Phe
XM_006714467.2:c.6847C>T	XP_006714530.1:p.Leu2283Phe
XM_006714468.1:c.6649C>T	XP_006714531.1:p.Leu2217Phe
XM_011514014.1:c.6466C>T	XP_011512316.1:p.Leu2156Phe
XM_011514015.1:c.6847C>T	XP_011512317.1:p.Leu2283Phe
XM_005248280.3:c.6847C>T	XP_005248337.1:p.Leu2283Phe
XM_005248282.5:c.6187C>T	XP_005248339.3:p.Leu2063Phe
XM_006714468.2:c.6649C>T	XP_006714531.1:p.Leu2217Phe
XM_017009329.1:c.6847C>T	XP_016864818.1:p.Leu2283Phe
XM_017009330.2:c.5230C>T	XP_016864819.1:p.Leu1744Phe
XM_017009331.1:c.5221C>T	XP_016864820.1:p.Leu1741Phe
NM_133433.4:c.6847C>T MANE Select	NP_597677.2:p.Leu2283Phe
NM_015384.5:c.6847C>T	NP_056199.2:p.Leu2283Phe