Canonical Allele Identifier: CA359521845

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064653T>A (hg19) ; chr5:g.37064551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064551T>A , CM000667.2:g.37064551T>A	GRCh38
NC_000005.9:g.37064653T>A , CM000667.1:g.37064653T>A	GRCh37
NC_000005.8:g.37100410T>A	NCBI36
NG_006987.1:g.192669T>A
NG_006987.2:g.192669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8074T>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2692Thr
ENST00000652901.1:c.*18T>A (NIPBL)	ENSP00000499536.1:n.*18T>A
ENST00000282516.12:c.8074T>A (NIPBL)	ENSP00000282516.8:p.Ser2692Thr
ENST00000514335.1:n.1997T>A (NIPBL)
ENST00000621733.1:c.1-27T>A (NIPBL)	ENSP00000480694.1:n.1-27T>A
NM_015384.4:c.*528T>A (NIPBL)	NP_056199.2:n.*528T>A
NM_133433.3:c.8074T>A (NIPBL)	NP_597677.2:p.Ser2692Thr
XM_005248280.2:c.*18T>A (NIPBL)	XP_005248337.1:n.*18T>A
XM_005248282.3:c.7330T>A (NIPBL)	XP_005248339.2:p.Ser2444Thr
XM_006714467.2:c.7927T>A (NIPBL)	XP_006714530.1:p.Ser2643Thr
XM_006714468.1:c.7876T>A (NIPBL)	XP_006714531.1:p.Ser2626Thr
XM_011514014.1:c.7693T>A (NIPBL)	XP_011512316.1:p.Ser2565Thr
XM_005248280.3:c.*18T>A (NIPBL)	XP_005248337.1:n.*18T>A
XM_005248282.5:c.7414T>A (NIPBL)	XP_005248339.3:p.Ser2472Thr
XM_006714468.2:c.7876T>A (NIPBL)	XP_006714531.1:p.Ser2626Thr
XM_017009329.1:c.*18T>A (NIPBL)	XP_016864818.1:n.*18T>A
XM_017009330.2:c.6457T>A (NIPBL)	XP_016864819.1:p.Ser2153Thr
XM_017009331.1:c.6448T>A (NIPBL)	XP_016864820.1:p.Ser2150Thr
XR_925644.2:n.12131A>T (CPLANE1)
NM_133433.4:c.8074T>A (NIPBL) MANE Select	NP_597677.2:p.Ser2692Thr
NM_015384.5:c.*528T>A (NIPBL)	NP_056199.2:n.*528T>A