Canonical Allele Identifier: CA443908110

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37049202-G-A
• MyVariant Identifiers: chr5:g.37049304G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049202G>A , CM000667.2:g.37049202G>A	GRCh38
NC_000005.9:g.37049304G>A , CM000667.1:g.37049304G>A	GRCh37
NC_000005.8:g.37085061G>A	NCBI36
NG_006987.1:g.177320G>A
NG_006987.2:g.177320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6855G>A MANE Select	ENSP00000282516.8:p.Gln2285=
ENST00000652901.1:c.6855G>A	ENSP00000499536.1:p.Gln2285=
ENST00000282516.12:c.6855G>A	ENSP00000282516.8:p.Gln2285=
ENST00000448238.2:c.6855G>A	ENSP00000406266.2:p.Gln2285=
ENST00000621733.1:c.1-15376G>A	ENSP00000480694.1:n.1-15376G>A
NM_015384.4:c.6855G>A	NP_056199.2:p.Gln2285=
NM_133433.3:c.6855G>A	NP_597677.2:p.Gln2285=
XM_005248280.2:c.6855G>A	XP_005248337.1:p.Gln2285=
XM_005248282.3:c.6111G>A	XP_005248339.2:p.Gln2037=
XM_006714467.2:c.6855G>A	XP_006714530.1:p.Gln2285=
XM_006714468.1:c.6657G>A	XP_006714531.1:p.Gln2219=
XM_011514014.1:c.6474G>A	XP_011512316.1:p.Gln2158=
XM_011514015.1:c.6855G>A	XP_011512317.1:p.Gln2285=
XM_005248280.3:c.6855G>A	XP_005248337.1:p.Gln2285=
XM_005248282.5:c.6195G>A	XP_005248339.3:p.Gln2065=
XM_006714468.2:c.6657G>A	XP_006714531.1:p.Gln2219=
XM_017009329.1:c.6855G>A	XP_016864818.1:p.Gln2285=
XM_017009330.2:c.5238G>A	XP_016864819.1:p.Gln1746=
XM_017009331.1:c.5229G>A	XP_016864820.1:p.Gln1743=
NM_133433.4:c.6855G>A MANE Select	NP_597677.2:p.Gln2285=
NM_015384.5:c.6855G>A	NP_056199.2:p.Gln2285=