Canonical Allele Identifier: CA359504477
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-37045521-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045521T>C , CM000667.2:g.37045521T>C GRCh38
NC_000005.9:g.37045623T>C , CM000667.1:g.37045623T>C GRCh37
NC_000005.8:g.37081380T>C NCBI36
NG_006987.1:g.173639T>C
NG_006987.2:g.173639T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.6422T>C MANE Select ENSP00000282516.8:p.Leu2141Pro
ENST00000652901.1:c.6422T>C ENSP00000499536.1:p.Leu2141Pro
ENST00000282516.12:c.6422T>C ENSP00000282516.8:p.Leu2141Pro
ENST00000448238.2:c.6422T>C ENSP00000406266.2:p.Leu2141Pro
ENST00000621733.1:c.1-19057T>C ENSP00000480694.1:n.1-19057T>C
NM_015384.4:c.6422T>C NP_056199.2:p.Leu2141Pro
NM_133433.3:c.6422T>C NP_597677.2:p.Leu2141Pro
XM_005248280.2:c.6422T>C XP_005248337.1:p.Leu2141Pro
XM_005248282.3:c.5678T>C XP_005248339.2:p.Leu1893Pro
XM_006714467.2:c.6422T>C XP_006714530.1:p.Leu2141Pro
XM_006714468.1:c.6224T>C XP_006714531.1:p.Leu2075Pro
XM_011514014.1:c.6041T>C XP_011512316.1:p.Leu2014Pro
XM_011514015.1:c.6422T>C XP_011512317.1:p.Leu2141Pro
XM_005248280.3:c.6422T>C XP_005248337.1:p.Leu2141Pro
XM_005248282.5:c.5762T>C XP_005248339.3:p.Leu1921Pro
XM_006714468.2:c.6224T>C XP_006714531.1:p.Leu2075Pro
XM_017009329.1:c.6422T>C XP_016864818.1:p.Leu2141Pro
XM_017009330.2:c.4805T>C XP_016864819.1:p.Leu1602Pro
XM_017009331.1:c.4796T>C XP_016864820.1:p.Leu1599Pro
NM_133433.4:c.6422T>C MANE Select NP_597677.2:p.Leu2141Pro
NM_015384.5:c.6422T>C NP_056199.2:p.Leu2141Pro