Canonical Allele Identifier: CA359521847

Gene: NIPBL CPLANE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8074T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2692Pro
ENST00000652901.1:c.*18T>C (NIPBL)	ENSP00000499536.1:n.*18T>C
ENST00000282516.12:c.8074T>C (NIPBL)	ENSP00000282516.8:p.Ser2692Pro
ENST00000514335.1:n.1997T>C (NIPBL)
ENST00000621733.1:c.1-27T>C (NIPBL)	ENSP00000480694.1:n.1-27T>C
NM_015384.4:c.*528T>C (NIPBL)	NP_056199.2:n.*528T>C
NM_133433.3:c.8074T>C (NIPBL)	NP_597677.2:p.Ser2692Pro
XM_005248280.2:c.*18T>C (NIPBL)	XP_005248337.1:n.*18T>C
XM_005248282.3:c.7330T>C (NIPBL)	XP_005248339.2:p.Ser2444Pro
XM_006714467.2:c.7927T>C (NIPBL)	XP_006714530.1:p.Ser2643Pro
XM_006714468.1:c.7876T>C (NIPBL)	XP_006714531.1:p.Ser2626Pro
XM_011514014.1:c.7693T>C (NIPBL)	XP_011512316.1:p.Ser2565Pro
XM_005248280.3:c.*18T>C (NIPBL)	XP_005248337.1:n.*18T>C
XM_005248282.5:c.7414T>C (NIPBL)	XP_005248339.3:p.Ser2472Pro
XM_006714468.2:c.7876T>C (NIPBL)	XP_006714531.1:p.Ser2626Pro
XM_017009329.1:c.*18T>C (NIPBL)	XP_016864818.1:n.*18T>C
XM_017009330.2:c.6457T>C (NIPBL)	XP_016864819.1:p.Ser2153Pro
XM_017009331.1:c.6448T>C (NIPBL)	XP_016864820.1:p.Ser2150Pro
XR_925644.2:n.12131A>G (CPLANE1)
NM_133433.4:c.8074T>C (NIPBL) MANE Select	NP_597677.2:p.Ser2692Pro
NM_015384.5:c.*528T>C (NIPBL)	NP_056199.2:n.*528T>C