Allele Registry

Canonical Allele Identifier: CA267563

Gene: NIPBL HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.37057249C>T

GRCh37 chr5:g.37057351C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000086390

RCV001526581

ClinVar Variation:

99940

dbSNP:

80358370

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37057249C>T , CM000667.2:g.37057249C>T	GRCh38
NC_000005.9:g.37057351C>T , CM000667.1:g.37057351C>T	GRCh37
NC_000005.8:g.37093108C>T	NCBI36
NG_006987.1:g.185367C>T
NG_006987.2:g.185367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7327C>T MANE Select	ENSP00000282516.8:p.Gln2443Ter
ENST00000652901.1:c.7264-1642C>T	ENSP00000499536.1:n.7264-1642C>T
ENST00000282516.12:c.7327C>T	ENSP00000282516.8:p.Gln2443Ter
ENST00000448238.2:c.7327C>T	ENSP00000406266.2:p.Gln2443Ter
ENST00000514335.1:n.1209C>T
ENST00000621733.1:c.1-7329C>T	ENSP00000480694.1:n.1-7329C>T
NM_015384.4:c.7327C>T	NP_056199.2:p.Gln2443Ter
NM_133433.3:c.7327C>T	NP_597677.2:p.Gln2443Ter
XM_005248280.2:c.7327C>T	XP_005248337.1:p.Gln2443Ter
XM_005248282.3:c.6583C>T	XP_005248339.2:p.Gln2195Ter
XM_006714467.2:c.7264-1642C>T	XP_006714530.1:n.7264-1642C>T
XM_006714468.1:c.7129C>T	XP_006714531.1:p.Gln2377Ter
XM_011514014.1:c.6946C>T	XP_011512316.1:p.Gln2316Ter
XM_011514015.1:c.7264-3595C>T	XP_011512317.1:n.7264-3595C>T
XM_005248280.3:c.7327C>T	XP_005248337.1:p.Gln2443Ter
XM_005248282.5:c.6667C>T	XP_005248339.3:p.Gln2223Ter
XM_006714468.2:c.7129C>T	XP_006714531.1:p.Gln2377Ter
XM_017009329.1:c.7264-1642C>T	XP_016864818.1:n.7264-1642C>T
XM_017009330.2:c.5710C>T	XP_016864819.1:p.Gln1904Ter
XM_017009331.1:c.5701C>T	XP_016864820.1:p.Gln1901Ter
NM_133433.4:c.7327C>T MANE Select	NP_597677.2:p.Gln2443Ter
NM_015384.5:c.7327C>T	NP_056199.2:p.Gln2443Ter

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