Canonical Allele Identifier: CA3236562

Gene: NIPBL

Linked Data

• dbSNP Id: rs776570810
• ExAC: 5:37010209 A / T
• gnomAD v2: 5-37010209-A-T
• gnomAD v4: 5-37010107-A-T
• MyVariant Identifiers: chr5:g.37010209A>T (hg19) ; chr5:g.37010107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010107A>T , CM000667.2:g.37010107A>T	GRCh38
NC_000005.9:g.37010209A>T , CM000667.1:g.37010209A>T	GRCh37
NC_000005.8:g.37045966A>T	NCBI36
NG_006987.1:g.138225A>T
NG_006987.2:g.138225A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4442A>T MANE Select	ENSP00000282516.8:p.Asp1481Val
ENST00000652901.1:c.4442A>T	ENSP00000499536.1:p.Asp1481Val
ENST00000282516.12:c.4442A>T	ENSP00000282516.8:p.Asp1481Val
ENST00000448238.2:c.4442A>T	ENSP00000406266.2:p.Asp1481Val
ENST00000621733.1:c.1-54471A>T	ENSP00000480694.1:n.1-54471A>T
NM_015384.4:c.4442A>T	NP_056199.2:p.Asp1481Val
NM_133433.3:c.4442A>T	NP_597677.2:p.Asp1481Val
XM_005248280.2:c.4442A>T	XP_005248337.1:p.Asp1481Val
XM_005248282.3:c.3698A>T	XP_005248339.2:p.Asp1233Val
XM_006714467.2:c.4442A>T	XP_006714530.1:p.Asp1481Val
XM_006714468.1:c.4244A>T	XP_006714531.1:p.Asp1415Val
XM_011514014.1:c.4061A>T	XP_011512316.1:p.Asp1354Val
XM_011514015.1:c.4442A>T	XP_011512317.1:p.Asp1481Val
XM_005248280.3:c.4442A>T	XP_005248337.1:p.Asp1481Val
XM_005248282.5:c.3782A>T	XP_005248339.3:p.Asp1261Val
XM_006714468.2:c.4244A>T	XP_006714531.1:p.Asp1415Val
XM_017009329.1:c.4442A>T	XP_016864818.1:p.Asp1481Val
XM_017009330.2:c.2825A>T	XP_016864819.1:p.Asp942Val
XM_017009331.1:c.2816A>T	XP_016864820.1:p.Asp939Val
NM_133433.4:c.4442A>T MANE Select	NP_597677.2:p.Asp1481Val
NM_015384.5:c.4442A>T	NP_056199.2:p.Asp1481Val