Canonical Allele Identifier: CA117058827

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1027590050
• gnomAD v2: 5-37064459-T-C
• gnomAD v3: 5-37064357-T-C
• gnomAD v4: 5-37064357-T-C
• MyVariant Identifiers: chr5:g.37064459T>C (hg19) ; chr5:g.37064459_37064460delinsCG (hg19) ; chr5:g.37064357T>C (hg38) ; chr5:g.37064357_37064358delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064357T>C , CM000667.2:g.37064357T>C	GRCh38
NC_000005.9:g.37064459T>C , CM000667.1:g.37064459T>C	GRCh37
NC_000005.8:g.37100216T>C	NCBI36
NG_006987.1:g.192475T>C
NG_006987.2:g.192475T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-170T>C (NIPBL) MANE Select	ENSP00000282516.8:n.8050-170T>C
ENST00000652901.1:c.7944-170T>C (NIPBL)	ENSP00000499536.1:n.7944-170T>C
ENST00000282516.12:c.8050-170T>C (NIPBL)	ENSP00000282516.8:n.8050-170T>C
ENST00000514335.1:n.1973-170T>C (NIPBL)
ENST00000621733.1:c.1-221T>C (NIPBL)	ENSP00000480694.1:n.1-221T>C
NM_015384.4:c.*334T>C (NIPBL)	NP_056199.2:n.*334T>C
NM_133433.3:c.8050-170T>C (NIPBL)	NP_597677.2:n.8050-170T>C
XM_005248280.2:c.8091-170T>C (NIPBL)	XP_005248337.1:n.8091-170T>C
XM_005248282.3:c.7306-170T>C (NIPBL)	XP_005248339.2:n.7306-170T>C
XM_006714467.2:c.7903-170T>C (NIPBL)	XP_006714530.1:n.7903-170T>C
XM_006714468.1:c.7852-170T>C (NIPBL)	XP_006714531.1:n.7852-170T>C
XM_011514014.1:c.7669-170T>C (NIPBL)	XP_011512316.1:n.7669-170T>C
XM_005248280.3:c.8091-170T>C (NIPBL)	XP_005248337.1:n.8091-170T>C
XM_005248282.5:c.7390-170T>C (NIPBL)	XP_005248339.3:n.7390-170T>C
XM_006714468.2:c.7852-170T>C (NIPBL)	XP_006714531.1:n.7852-170T>C
XM_017009329.1:c.7944-170T>C (NIPBL)	XP_016864818.1:n.7944-170T>C
XM_017009330.2:c.6433-170T>C (NIPBL)	XP_016864819.1:n.6433-170T>C
XM_017009331.1:c.6424-170T>C (NIPBL)	XP_016864820.1:n.6424-170T>C
XR_925644.2:n.12325A>G (CPLANE1)
NM_133433.4:c.8050-170T>C (NIPBL) MANE Select	NP_597677.2:n.8050-170T>C
NM_015384.5:c.*334T>C (NIPBL)	NP_056199.2:n.*334T>C