Canonical Allele Identifier: CA10621721

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 353369
• ClinVar RCV Id: RCV000320082
• dbSNP Id: rs544681871
• gnomAD v2: 5-36877117-A-C
• gnomAD v3: 5-36877015-A-C
• gnomAD v4: 5-36877015-A-C
• MyVariant Identifiers: chr5:g.36877117A>C (hg19) ; chr5:g.36877015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36877015A>C , CM000667.2:g.36877015A>C	GRCh38
NC_000005.9:g.36877117A>C , CM000667.1:g.36877117A>C	GRCh37
NC_000005.8:g.36912874A>C	NCBI36
NG_006987.1:g.5133A>C
NG_006987.2:g.5133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-243A>C MANE Select	ENSP00000282516.8:n.-243A>C
ENST00000652901.1:c.-243A>C	ENSP00000499536.1:n.-243A>C
ENST00000282516.12:c.-243A>C	ENSP00000282516.8:n.-243A>C
ENST00000448238.2:c.-243A>C	ENSP00000406266.2:n.-243A>C
ENST00000621733.1:c.-8A>C	ENSP00000480694.1:n.-8A>C
NM_015384.4:c.-243A>C	NP_056199.2:n.-243A>C
NM_133433.3:c.-243A>C	NP_597677.2:n.-243A>C
XM_005248280.2:c.-243A>C	XP_005248337.1:n.-243A>C
XM_006714467.2:c.-243A>C	XP_006714530.1:n.-243A>C
XM_006714468.1:c.-243A>C	XP_006714531.1:n.-243A>C
XM_011514014.1:c.-243A>C	XP_011512316.1:n.-243A>C
XM_011514015.1:c.-243A>C	XP_011512317.1:n.-243A>C
XM_005248280.3:c.-243A>C	XP_005248337.1:n.-243A>C
XM_006714468.2:c.-243A>C	XP_006714531.1:n.-243A>C
XM_017009329.1:c.-243A>C	XP_016864818.1:n.-243A>C
XM_017009331.1:c.-243A>C	XP_016864820.1:n.-243A>C
NM_133433.4:c.-243A>C MANE Select	NP_597677.2:n.-243A>C
NM_015384.5:c.-243A>C	NP_056199.2:n.-243A>C