Canonical Allele Identifier: CA443905307

Gene: NIPBL

Linked Data

• dbSNP Id: rs1254246484
• gnomAD v2: 5-37010237-T-C
• gnomAD v3: 5-37010135-T-C
• gnomAD v4: 5-37010135-T-C
• MyVariant Identifiers: chr5:g.37010237T>C (hg19) ; chr5:g.37010135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010135T>C , CM000667.2:g.37010135T>C	GRCh38
NC_000005.9:g.37010237T>C , CM000667.1:g.37010237T>C	GRCh37
NC_000005.8:g.37045994T>C	NCBI36
NG_006987.1:g.138253T>C
NG_006987.2:g.138253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4470T>C MANE Select	ENSP00000282516.8:p.Val1490=
ENST00000652901.1:c.4470T>C	ENSP00000499536.1:p.Val1490=
ENST00000282516.12:c.4470T>C	ENSP00000282516.8:p.Val1490=
ENST00000448238.2:c.4470T>C	ENSP00000406266.2:p.Val1490=
ENST00000621733.1:c.1-54443T>C	ENSP00000480694.1:n.1-54443T>C
NM_015384.4:c.4470T>C	NP_056199.2:p.Val1490=
NM_133433.3:c.4470T>C	NP_597677.2:p.Val1490=
XM_005248280.2:c.4470T>C	XP_005248337.1:p.Val1490=
XM_005248282.3:c.3726T>C	XP_005248339.2:p.Val1242=
XM_006714467.2:c.4470T>C	XP_006714530.1:p.Val1490=
XM_006714468.1:c.4272T>C	XP_006714531.1:p.Val1424=
XM_011514014.1:c.4089T>C	XP_011512316.1:p.Val1363=
XM_011514015.1:c.4470T>C	XP_011512317.1:p.Val1490=
XM_005248280.3:c.4470T>C	XP_005248337.1:p.Val1490=
XM_005248282.5:c.3810T>C	XP_005248339.3:p.Val1270=
XM_006714468.2:c.4272T>C	XP_006714531.1:p.Val1424=
XM_017009329.1:c.4470T>C	XP_016864818.1:p.Val1490=
XM_017009330.2:c.2853T>C	XP_016864819.1:p.Val951=
XM_017009331.1:c.2844T>C	XP_016864820.1:p.Val948=
NM_133433.4:c.4470T>C MANE Select	NP_597677.2:p.Val1490=
NM_015384.5:c.4470T>C	NP_056199.2:p.Val1490=