Canonical Allele Identifier: CA117059094

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 796301
• ClinVar RCV Id: RCV003603084
• dbSNP Id: rs997526101
• gnomAD v3: 5-37064868-C-T
• gnomAD v4: 5-37064868-C-T
• MyVariant Identifiers: chr5:g.37064970C>T (hg19) ; chr5:g.37064868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064868C>T , CM000667.2:g.37064868C>T	GRCh38
NC_000005.9:g.37064970C>T , CM000667.1:g.37064970C>T	GRCh37
NC_000005.8:g.37100727C>T	NCBI36
NG_006987.1:g.192986C>T
NG_006987.2:g.192986C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8391C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2797=
ENST00000652901.1:c.*335C>T (NIPBL)	ENSP00000499536.1:n.*335C>T
ENST00000282516.12:c.8391C>T (NIPBL)	ENSP00000282516.8:p.Ala2797=
ENST00000514335.1:n.2314C>T (NIPBL)
ENST00000621733.1:c.291C>T (NIPBL)	ENSP00000480694.1:p.Ala97=
NM_015384.4:c.*845C>T (NIPBL)	NP_056199.2:n.*845C>T
NM_133433.3:c.8391C>T (NIPBL)	NP_597677.2:p.Ala2797=
XM_005248280.2:c.*335C>T (NIPBL)	XP_005248337.1:n.*335C>T
XM_005248282.3:c.7647C>T (NIPBL)	XP_005248339.2:p.Ala2549=
XM_006714467.2:c.8244C>T (NIPBL)	XP_006714530.1:p.Ala2748=
XM_006714468.1:c.8193C>T (NIPBL)	XP_006714531.1:p.Ala2731=
XM_011514014.1:c.8010C>T (NIPBL)	XP_011512316.1:p.Ala2670=
XM_005248280.3:c.*335C>T (NIPBL)	XP_005248337.1:n.*335C>T
XM_005248282.5:c.7731C>T (NIPBL)	XP_005248339.3:p.Ala2577=
XM_006714468.2:c.8193C>T (NIPBL)	XP_006714531.1:p.Ala2731=
XM_017009329.1:c.*335C>T (NIPBL)	XP_016864818.1:n.*335C>T
XM_017009330.2:c.6774C>T (NIPBL)	XP_016864819.1:p.Ala2258=
XM_017009331.1:c.6765C>T (NIPBL)	XP_016864820.1:p.Ala2255=
XR_925644.2:n.11814G>A (CPLANE1)
NM_133433.4:c.8391C>T (NIPBL) MANE Select	NP_597677.2:p.Ala2797=
NM_015384.5:c.*845C>T (NIPBL)	NP_056199.2:n.*845C>T