Canonical Allele Identifier: CA359520196

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37063845-T-C
• MyVariant Identifiers: chr5:g.37063947T>C (hg19) ; chr5:g.37063845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063845T>C , CM000667.2:g.37063845T>C	GRCh38
NC_000005.9:g.37063947T>C , CM000667.1:g.37063947T>C	GRCh37
NC_000005.8:g.37099704T>C	NCBI36
NG_006987.1:g.191963T>C
NG_006987.2:g.191963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7916T>C MANE Select	ENSP00000282516.8:p.Val2639Ala
ENST00000652901.1:c.7769T>C	ENSP00000499536.1:p.Val2590Ala
ENST00000282516.12:c.7916T>C	ENSP00000282516.8:p.Val2639Ala
ENST00000448238.2:c.7916T>C	ENSP00000406266.2:p.Val2639Ala
ENST00000513819.1:c.319T>C	ENSP00000421504.1:p.Phe107Leu
ENST00000514335.1:n.1798T>C
ENST00000621733.1:c.1-733T>C	ENSP00000480694.1:n.1-733T>C
NM_015384.4:c.7916T>C	NP_056199.2:p.Val2639Ala
NM_133433.3:c.7916T>C	NP_597677.2:p.Val2639Ala
XM_005248280.2:c.7916T>C	XP_005248337.1:p.Val2639Ala
XM_005248282.3:c.7172T>C	XP_005248339.2:p.Val2391Ala
XM_006714467.2:c.7769T>C	XP_006714530.1:p.Val2590Ala
XM_006714468.1:c.7718T>C	XP_006714531.1:p.Val2573Ala
XM_011514014.1:c.7535T>C	XP_011512316.1:p.Val2512Ala
XM_005248280.3:c.7916T>C	XP_005248337.1:p.Val2639Ala
XM_005248282.5:c.7256T>C	XP_005248339.3:p.Val2419Ala
XM_006714468.2:c.7718T>C	XP_006714531.1:p.Val2573Ala
XM_017009329.1:c.7769T>C	XP_016864818.1:p.Val2590Ala
XM_017009330.2:c.6299T>C	XP_016864819.1:p.Val2100Ala
XM_017009331.1:c.6290T>C	XP_016864820.1:p.Val2097Ala
NM_133433.4:c.7916T>C MANE Select	NP_597677.2:p.Val2639Ala
NM_015384.5:c.7916T>C	NP_056199.2:p.Val2639Ala