Canonical Allele Identifier: CA3237260

Gene: NIPBL

Linked Data

• dbSNP Id: rs148519494
• ExAC: 5:37060996 C / T
• gnomAD v2: 5-37060996-C-T
• gnomAD v3: 5-37060894-C-T
• gnomAD v4: 5-37060894-C-T
• COSMIC: COSM1067733 ; COSM1067734
• MyVariant Identifiers: chr5:g.37060996C>T (hg19) ; chr5:g.37060894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060894C>T , CM000667.2:g.37060894C>T	GRCh38
NC_000005.9:g.37060996C>T , CM000667.1:g.37060996C>T	GRCh37
NC_000005.8:g.37096753C>T	NCBI36
NG_006987.1:g.189012C>T
NG_006987.2:g.189012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7736C>T MANE Select	ENSP00000282516.8:p.Ala2579Val
ENST00000652901.1:c.7589C>T	ENSP00000499536.1:p.Ala2530Val
ENST00000282516.12:c.7736C>T	ENSP00000282516.8:p.Ala2579Val
ENST00000448238.2:c.7736C>T	ENSP00000406266.2:p.Ala2579Val
ENST00000513819.1:c.263+1729C>T	ENSP00000421504.1:n.263+1729C>T
ENST00000514335.1:n.1618C>T
ENST00000621733.1:c.1-3684C>T	ENSP00000480694.1:n.1-3684C>T
NM_015384.4:c.7736C>T	NP_056199.2:p.Ala2579Val
NM_133433.3:c.7736C>T	NP_597677.2:p.Ala2579Val
XM_005248280.2:c.7736C>T	XP_005248337.1:p.Ala2579Val
XM_005248282.3:c.6992C>T	XP_005248339.2:p.Ala2331Val
XM_006714467.2:c.7589C>T	XP_006714530.1:p.Ala2530Val
XM_006714468.1:c.7538C>T	XP_006714531.1:p.Ala2513Val
XM_011514014.1:c.7355C>T	XP_011512316.1:p.Ala2452Val
XM_011514015.1:c.*48C>T	XP_011512317.1:n.*48C>T
XM_005248280.3:c.7736C>T	XP_005248337.1:p.Ala2579Val
XM_005248282.5:c.7076C>T	XP_005248339.3:p.Ala2359Val
XM_006714468.2:c.7538C>T	XP_006714531.1:p.Ala2513Val
XM_017009329.1:c.7589C>T	XP_016864818.1:p.Ala2530Val
XM_017009330.2:c.6119C>T	XP_016864819.1:p.Ala2040Val
XM_017009331.1:c.6110C>T	XP_016864820.1:p.Ala2037Val
NM_133433.4:c.7736C>T MANE Select	NP_597677.2:p.Ala2579Val
NM_015384.5:c.7736C>T	NP_056199.2:p.Ala2579Val