Canonical Allele Identifier: CA3237152

Gene: NIPBL

Linked Data

• dbSNP Id: rs777083356
• ExAC: 5:37052578 G / T
• gnomAD v2: 5-37052578-G-T
• gnomAD v3: 5-37052476-G-T
• gnomAD v4: 5-37052476-G-T
• MyVariant Identifiers: chr5:g.37052578G>T (hg19) ; chr5:g.37052476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052476G>T , CM000667.2:g.37052476G>T	GRCh38
NC_000005.9:g.37052578G>T , CM000667.1:g.37052578G>T	GRCh37
NC_000005.8:g.37088335G>T	NCBI36
NG_006987.1:g.180594G>T
NG_006987.2:g.180594G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7173G>T MANE Select	ENSP00000282516.8:p.Leu2391Phe
ENST00000652901.1:c.7173G>T	ENSP00000499536.1:p.Leu2391Phe
ENST00000282516.12:c.7173G>T	ENSP00000282516.8:p.Leu2391Phe
ENST00000448238.2:c.7173G>T	ENSP00000406266.2:p.Leu2391Phe
ENST00000514335.1:n.1055G>T
ENST00000621733.1:c.1-12102G>T	ENSP00000480694.1:n.1-12102G>T
NM_015384.4:c.7173G>T	NP_056199.2:p.Leu2391Phe
NM_133433.3:c.7173G>T	NP_597677.2:p.Leu2391Phe
XM_005248280.2:c.7173G>T	XP_005248337.1:p.Leu2391Phe
XM_005248282.3:c.6429G>T	XP_005248339.2:p.Leu2143Phe
XM_006714467.2:c.7173G>T	XP_006714530.1:p.Leu2391Phe
XM_006714468.1:c.6975G>T	XP_006714531.1:p.Leu2325Phe
XM_011514014.1:c.6792G>T	XP_011512316.1:p.Leu2264Phe
XM_011514015.1:c.7173G>T	XP_011512317.1:p.Leu2391Phe
XM_005248280.3:c.7173G>T	XP_005248337.1:p.Leu2391Phe
XM_005248282.5:c.6513G>T	XP_005248339.3:p.Leu2171Phe
XM_006714468.2:c.6975G>T	XP_006714531.1:p.Leu2325Phe
XM_017009329.1:c.7173G>T	XP_016864818.1:p.Leu2391Phe
XM_017009330.2:c.5556G>T	XP_016864819.1:p.Leu1852Phe
XM_017009331.1:c.5547G>T	XP_016864820.1:p.Leu1849Phe
NM_133433.4:c.7173G>T MANE Select	NP_597677.2:p.Leu2391Phe
NM_015384.5:c.7173G>T	NP_056199.2:p.Leu2391Phe