Canonical Allele Identifier: CA359505572

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36985992-A-G
• MyVariant Identifiers: chr5:g.36986094A>G (hg19) ; chr5:g.36985992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985992A>G , CM000667.2:g.36985992A>G	GRCh38
NC_000005.9:g.36986094A>G , CM000667.1:g.36986094A>G	GRCh37
NC_000005.8:g.37021851A>G	NCBI36
NG_006987.1:g.114110A>G
NG_006987.2:g.114110A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2812A>G MANE Select	ENSP00000282516.8:p.Lys938Glu
ENST00000652901.1:c.2812A>G	ENSP00000499536.1:p.Lys938Glu
ENST00000282516.12:c.2812A>G	ENSP00000282516.8:p.Lys938Glu
ENST00000448238.2:c.2812A>G	ENSP00000406266.2:p.Lys938Glu
ENST00000504430.5:n.2432A>G
ENST00000621733.1:c.1-78586A>G	ENSP00000480694.1:n.1-78586A>G
NM_015384.4:c.2812A>G	NP_056199.2:p.Lys938Glu
NM_133433.3:c.2812A>G	NP_597677.2:p.Lys938Glu
XM_005248280.2:c.2812A>G	XP_005248337.1:p.Lys938Glu
XM_005248282.3:c.2068A>G	XP_005248339.2:p.Lys690Glu
XM_006714467.2:c.2812A>G	XP_006714530.1:p.Lys938Glu
XM_006714468.1:c.2812A>G	XP_006714531.1:p.Lys938Glu
XM_011514014.1:c.2812A>G	XP_011512316.1:p.Lys938Glu
XM_011514015.1:c.2812A>G	XP_011512317.1:p.Lys938Glu
XM_005248280.3:c.2812A>G	XP_005248337.1:p.Lys938Glu
XM_005248282.5:c.2152A>G	XP_005248339.3:p.Lys718Glu
XM_006714468.2:c.2812A>G	XP_006714531.1:p.Lys938Glu
XM_017009329.1:c.2812A>G	XP_016864818.1:p.Lys938Glu
XM_017009330.2:c.1195A>G	XP_016864819.1:p.Lys399Glu
XM_017009331.1:c.1495+9590A>G	XP_016864820.1:n.1495+9590A>G
NM_133433.4:c.2812A>G MANE Select	NP_597677.2:p.Lys938Glu
NM_015384.5:c.2812A>G	NP_056199.2:p.Lys938Glu