Canonical Allele Identifier: CA359520212

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37063952G>T (hg19) ; chr5:g.37063850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063850G>T , CM000667.2:g.37063850G>T	GRCh38
NC_000005.9:g.37063952G>T , CM000667.1:g.37063952G>T	GRCh37
NC_000005.8:g.37099709G>T	NCBI36
NG_006987.1:g.191968G>T
NG_006987.2:g.191968G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7921G>T MANE Select	ENSP00000282516.8:p.Ala2641Ser
ENST00000652901.1:c.7774G>T	ENSP00000499536.1:p.Ala2592Ser
ENST00000282516.12:c.7921G>T	ENSP00000282516.8:p.Ala2641Ser
ENST00000448238.2:c.7921G>T	ENSP00000406266.2:p.Ala2641Ser
ENST00000513819.1:c.324G>T	ENSP00000421504.1:p.Gln108His
ENST00000514335.1:n.1803G>T
ENST00000621733.1:c.1-728G>T	ENSP00000480694.1:n.1-728G>T
NM_015384.4:c.7921G>T	NP_056199.2:p.Ala2641Ser
NM_133433.3:c.7921G>T	NP_597677.2:p.Ala2641Ser
XM_005248280.2:c.7921G>T	XP_005248337.1:p.Ala2641Ser
XM_005248282.3:c.7177G>T	XP_005248339.2:p.Ala2393Ser
XM_006714467.2:c.7774G>T	XP_006714530.1:p.Ala2592Ser
XM_006714468.1:c.7723G>T	XP_006714531.1:p.Ala2575Ser
XM_011514014.1:c.7540G>T	XP_011512316.1:p.Ala2514Ser
XM_005248280.3:c.7921G>T	XP_005248337.1:p.Ala2641Ser
XM_005248282.5:c.7261G>T	XP_005248339.3:p.Ala2421Ser
XM_006714468.2:c.7723G>T	XP_006714531.1:p.Ala2575Ser
XM_017009329.1:c.7774G>T	XP_016864818.1:p.Ala2592Ser
XM_017009330.2:c.6304G>T	XP_016864819.1:p.Ala2102Ser
XM_017009331.1:c.6295G>T	XP_016864820.1:p.Ala2099Ser
NM_133433.4:c.7921G>T MANE Select	NP_597677.2:p.Ala2641Ser
NM_015384.5:c.7921G>T	NP_056199.2:p.Ala2641Ser