Canonical Allele Identifier: CA443909378

Gene: NIPBL

Linked Data

• dbSNP Id: rs762930515
• gnomAD v2: 5-37051889-A-T
• gnomAD v4: 5-37051787-A-T
• MyVariant Identifiers: chr5:g.37051889A>T (hg19) ; chr5:g.37051787A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051787A>T , CM000667.2:g.37051787A>T	GRCh38
NC_000005.9:g.37051889A>T , CM000667.1:g.37051889A>T	GRCh37
NC_000005.8:g.37087646A>T	NCBI36
NG_006987.1:g.179905A>T
NG_006987.2:g.179905A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6963A>T MANE Select	ENSP00000282516.8:p.Pro2321=
ENST00000652901.1:c.6963A>T	ENSP00000499536.1:p.Pro2321=
ENST00000282516.12:c.6963A>T	ENSP00000282516.8:p.Pro2321=
ENST00000448238.2:c.6963A>T	ENSP00000406266.2:p.Pro2321=
ENST00000514335.1:n.845A>T
ENST00000621733.1:c.1-12791A>T	ENSP00000480694.1:n.1-12791A>T
NM_015384.4:c.6963A>T	NP_056199.2:p.Pro2321=
NM_133433.3:c.6963A>T	NP_597677.2:p.Pro2321=
XM_005248280.2:c.6963A>T	XP_005248337.1:p.Pro2321=
XM_005248282.3:c.6219A>T	XP_005248339.2:p.Pro2073=
XM_006714467.2:c.6963A>T	XP_006714530.1:p.Pro2321=
XM_006714468.1:c.6765A>T	XP_006714531.1:p.Pro2255=
XM_011514014.1:c.6582A>T	XP_011512316.1:p.Pro2194=
XM_011514015.1:c.6963A>T	XP_011512317.1:p.Pro2321=
XM_005248280.3:c.6963A>T	XP_005248337.1:p.Pro2321=
XM_005248282.5:c.6303A>T	XP_005248339.3:p.Pro2101=
XM_006714468.2:c.6765A>T	XP_006714531.1:p.Pro2255=
XM_017009329.1:c.6963A>T	XP_016864818.1:p.Pro2321=
XM_017009330.2:c.5346A>T	XP_016864819.1:p.Pro1782=
XM_017009331.1:c.5337A>T	XP_016864820.1:p.Pro1779=
NM_133433.4:c.6963A>T MANE Select	NP_597677.2:p.Pro2321=
NM_015384.5:c.6963A>T	NP_056199.2:p.Pro2321=