Canonical Allele Identifier: CA559023589

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1407300481
• gnomAD v2: 5-37064613-C-T
• gnomAD v4: 5-37064511-C-T
• MyVariant Identifiers: chr5:g.37064613C>T (hg19) ; chr5:g.37064511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064511C>T , CM000667.2:g.37064511C>T	GRCh38
NC_000005.9:g.37064613C>T , CM000667.1:g.37064613C>T	GRCh37
NC_000005.8:g.37100370C>T	NCBI36
NG_006987.1:g.192629C>T
NG_006987.2:g.192629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-16C>T (NIPBL) MANE Select	ENSP00000282516.8:n.8050-16C>T
ENST00000652901.1:c.7944-16C>T (NIPBL)	ENSP00000499536.1:n.7944-16C>T
ENST00000282516.12:c.8050-16C>T (NIPBL)	ENSP00000282516.8:n.8050-16C>T
ENST00000514335.1:n.1973-16C>T (NIPBL)
ENST00000621733.1:c.1-67C>T (NIPBL)	ENSP00000480694.1:n.1-67C>T
NM_015384.4:c.*488C>T (NIPBL)	NP_056199.2:n.*488C>T
NM_133433.3:c.8050-16C>T (NIPBL)	NP_597677.2:n.8050-16C>T
XM_005248280.2:c.8091-16C>T (NIPBL)	XP_005248337.1:n.8091-16C>T
XM_005248282.3:c.7306-16C>T (NIPBL)	XP_005248339.2:n.7306-16C>T
XM_006714467.2:c.7903-16C>T (NIPBL)	XP_006714530.1:n.7903-16C>T
XM_006714468.1:c.7852-16C>T (NIPBL)	XP_006714531.1:n.7852-16C>T
XM_011514014.1:c.7669-16C>T (NIPBL)	XP_011512316.1:n.7669-16C>T
XM_005248280.3:c.8091-16C>T (NIPBL)	XP_005248337.1:n.8091-16C>T
XM_005248282.5:c.7390-16C>T (NIPBL)	XP_005248339.3:n.7390-16C>T
XM_006714468.2:c.7852-16C>T (NIPBL)	XP_006714531.1:n.7852-16C>T
XM_017009329.1:c.7944-16C>T (NIPBL)	XP_016864818.1:n.7944-16C>T
XM_017009330.2:c.6433-16C>T (NIPBL)	XP_016864819.1:n.6433-16C>T
XM_017009331.1:c.6424-16C>T (NIPBL)	XP_016864820.1:n.6424-16C>T
XR_925644.2:n.12171G>A (CPLANE1)
NM_133433.4:c.8050-16C>T (NIPBL) MANE Select	NP_597677.2:n.8050-16C>T
NM_015384.5:c.*488C>T (NIPBL)	NP_056199.2:n.*488C>T