Canonical Allele Identifier: CA359522058

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37003410T>G (hg19) ; chr5:g.37003308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37003308T>G , CM000667.2:g.37003308T>G	GRCh38
NC_000005.9:g.37003410T>G , CM000667.1:g.37003410T>G	GRCh37
NC_000005.8:g.37039167T>G	NCBI36
NG_006987.1:g.131426T>G
NG_006987.2:g.131426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3816T>G MANE Select	ENSP00000282516.8:p.Asn1272Lys
ENST00000652901.1:c.3816T>G	ENSP00000499536.1:p.Asn1272Lys
ENST00000282516.12:c.3816T>G	ENSP00000282516.8:p.Asn1272Lys
ENST00000448238.2:c.3816T>G	ENSP00000406266.2:p.Asn1272Lys
ENST00000621733.1:c.1-61270T>G	ENSP00000480694.1:n.1-61270T>G
NM_015384.4:c.3816T>G	NP_056199.2:p.Asn1272Lys
NM_133433.3:c.3816T>G	NP_597677.2:p.Asn1272Lys
XM_005248280.2:c.3816T>G	XP_005248337.1:p.Asn1272Lys
XM_005248282.3:c.3072T>G	XP_005248339.2:p.Asn1024Lys
XM_006714467.2:c.3816T>G	XP_006714530.1:p.Asn1272Lys
XM_006714468.1:c.3618T>G	XP_006714531.1:p.Asn1206Lys
XM_011514014.1:c.3435T>G	XP_011512316.1:p.Asn1145Lys
XM_011514015.1:c.3816T>G	XP_011512317.1:p.Asn1272Lys
XM_005248280.3:c.3816T>G	XP_005248337.1:p.Asn1272Lys
XM_005248282.5:c.3156T>G	XP_005248339.3:p.Asn1052Lys
XM_006714468.2:c.3618T>G	XP_006714531.1:p.Asn1206Lys
XM_017009329.1:c.3816T>G	XP_016864818.1:p.Asn1272Lys
XM_017009330.2:c.2199T>G	XP_016864819.1:p.Asn733Lys
XM_017009331.1:c.2190T>G	XP_016864820.1:p.Asn730Lys
NM_133433.4:c.3816T>G MANE Select	NP_597677.2:p.Asn1272Lys
NM_015384.5:c.3816T>G	NP_056199.2:p.Asn1272Lys