Canonical Allele Identifier: CA359522170

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064596-G-A
• MyVariant Identifiers: chr5:g.37064698G>A (hg19) ; chr5:g.37064596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064596G>A , CM000667.2:g.37064596G>A	GRCh38
NC_000005.9:g.37064698G>A , CM000667.1:g.37064698G>A	GRCh37
NC_000005.8:g.37100455G>A	NCBI36
NG_006987.1:g.192714G>A
NG_006987.2:g.192714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8119G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Val2707Ile
ENST00000652901.1:c.*63G>A (NIPBL)	ENSP00000499536.1:n.*63G>A
ENST00000282516.12:c.8119G>A (NIPBL)	ENSP00000282516.8:p.Val2707Ile
ENST00000514335.1:n.2042G>A (NIPBL)
ENST00000621733.1:c.19G>A (NIPBL)	ENSP00000480694.1:p.Val7Ile
NM_015384.4:c.*573G>A (NIPBL)	NP_056199.2:n.*573G>A
NM_133433.3:c.8119G>A (NIPBL)	NP_597677.2:p.Val2707Ile
XM_005248280.2:c.*63G>A (NIPBL)	XP_005248337.1:n.*63G>A
XM_005248282.3:c.7375G>A (NIPBL)	XP_005248339.2:p.Val2459Ile
XM_006714467.2:c.7972G>A (NIPBL)	XP_006714530.1:p.Val2658Ile
XM_006714468.1:c.7921G>A (NIPBL)	XP_006714531.1:p.Val2641Ile
XM_011514014.1:c.7738G>A (NIPBL)	XP_011512316.1:p.Val2580Ile
XM_005248280.3:c.*63G>A (NIPBL)	XP_005248337.1:n.*63G>A
XM_005248282.5:c.7459G>A (NIPBL)	XP_005248339.3:p.Val2487Ile
XM_006714468.2:c.7921G>A (NIPBL)	XP_006714531.1:p.Val2641Ile
XM_017009329.1:c.*63G>A (NIPBL)	XP_016864818.1:n.*63G>A
XM_017009330.2:c.6502G>A (NIPBL)	XP_016864819.1:p.Val2168Ile
XM_017009331.1:c.6493G>A (NIPBL)	XP_016864820.1:p.Val2165Ile
XR_925644.2:n.12086C>T (CPLANE1)
NM_133433.4:c.8119G>A (NIPBL) MANE Select	NP_597677.2:p.Val2707Ile
NM_015384.5:c.*573G>A (NIPBL)	NP_056199.2:n.*573G>A