Canonical Allele Identifier: CA359522635

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064810A>T (hg19) ; chr5:g.37064708A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064708A>T , CM000667.2:g.37064708A>T	GRCh38
NC_000005.9:g.37064810A>T , CM000667.1:g.37064810A>T	GRCh37
NC_000005.8:g.37100567A>T	NCBI36
NG_006987.1:g.192826A>T
NG_006987.2:g.192826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8231A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Tyr2744Phe
ENST00000652901.1:c.*175A>T (NIPBL)	ENSP00000499536.1:n.*175A>T
ENST00000282516.12:c.8231A>T (NIPBL)	ENSP00000282516.8:p.Tyr2744Phe
ENST00000514335.1:n.2154A>T (NIPBL)
ENST00000621733.1:c.131A>T (NIPBL)	ENSP00000480694.1:p.Tyr44Phe
NM_015384.4:c.*685A>T (NIPBL)	NP_056199.2:n.*685A>T
NM_133433.3:c.8231A>T (NIPBL)	NP_597677.2:p.Tyr2744Phe
XM_005248280.2:c.*175A>T (NIPBL)	XP_005248337.1:n.*175A>T
XM_005248282.3:c.7487A>T (NIPBL)	XP_005248339.2:p.Tyr2496Phe
XM_006714467.2:c.8084A>T (NIPBL)	XP_006714530.1:p.Tyr2695Phe
XM_006714468.1:c.8033A>T (NIPBL)	XP_006714531.1:p.Tyr2678Phe
XM_011514014.1:c.7850A>T (NIPBL)	XP_011512316.1:p.Tyr2617Phe
XM_005248280.3:c.*175A>T (NIPBL)	XP_005248337.1:n.*175A>T
XM_005248282.5:c.7571A>T (NIPBL)	XP_005248339.3:p.Tyr2524Phe
XM_006714468.2:c.8033A>T (NIPBL)	XP_006714531.1:p.Tyr2678Phe
XM_017009329.1:c.*175A>T (NIPBL)	XP_016864818.1:n.*175A>T
XM_017009330.2:c.6614A>T (NIPBL)	XP_016864819.1:p.Tyr2205Phe
XM_017009331.1:c.6605A>T (NIPBL)	XP_016864820.1:p.Tyr2202Phe
XR_925644.2:n.11974T>A (CPLANE1)
NM_133433.4:c.8231A>T (NIPBL) MANE Select	NP_597677.2:p.Tyr2744Phe
NM_015384.5:c.*685A>T (NIPBL)	NP_056199.2:n.*685A>T