Canonical Allele Identifier: CA3235775

Gene: NIPBL

Linked Data

• dbSNP Id: rs750047678
• ExAC: 5:36958252 C / T
• gnomAD v2: 5-36958252-C-T
• gnomAD v4: 5-36958150-C-T
• MyVariant Identifiers: chr5:g.36958252C>T (hg19) ; chr5:g.36958150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958150C>T , CM000667.2:g.36958150C>T	GRCh38
NC_000005.9:g.36958252C>T , CM000667.1:g.36958252C>T	GRCh37
NC_000005.8:g.36994009C>T	NCBI36
NG_006987.1:g.86268C>T
NG_006987.2:g.86268C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.277C>T MANE Select	ENSP00000282516.8:p.Pro93Ser
ENST00000652901.1:c.277C>T	ENSP00000499536.1:p.Pro93Ser
ENST00000282516.12:c.277C>T	ENSP00000282516.8:p.Pro93Ser
ENST00000448238.2:c.277C>T	ENSP00000406266.2:p.Pro93Ser
ENST00000505998.5:n.256C>T
ENST00000621733.1:c.-1+81128C>T	ENSP00000480694.1:n.-1+81128C>T
NM_015384.4:c.277C>T	NP_056199.2:p.Pro93Ser
NM_133433.3:c.277C>T	NP_597677.2:p.Pro93Ser
XM_005248280.2:c.277C>T	XP_005248337.1:p.Pro93Ser
XM_006714467.2:c.277C>T	XP_006714530.1:p.Pro93Ser
XM_006714468.1:c.277C>T	XP_006714531.1:p.Pro93Ser
XM_011514014.1:c.277C>T	XP_011512316.1:p.Pro93Ser
XM_011514015.1:c.277C>T	XP_011512317.1:p.Pro93Ser
XM_005248280.3:c.277C>T	XP_005248337.1:p.Pro93Ser
XM_006714468.2:c.277C>T	XP_006714531.1:p.Pro93Ser
XM_017009329.1:c.277C>T	XP_016864818.1:p.Pro93Ser
XM_017009331.1:c.277C>T	XP_016864820.1:p.Pro93Ser
NM_133433.4:c.277C>T MANE Select	NP_597677.2:p.Pro93Ser
NM_015384.5:c.277C>T	NP_056199.2:p.Pro93Ser