Canonical Allele Identifier: CA359511935

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37052634T>C (hg19) ; chr5:g.37052532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052532T>C , CM000667.2:g.37052532T>C	GRCh38
NC_000005.9:g.37052634T>C , CM000667.1:g.37052634T>C	GRCh37
NC_000005.8:g.37088391T>C	NCBI36
NG_006987.1:g.180650T>C
NG_006987.2:g.180650T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7229T>C MANE Select	ENSP00000282516.8:p.Leu2410Pro
ENST00000652901.1:c.7229T>C	ENSP00000499536.1:p.Leu2410Pro
ENST00000282516.12:c.7229T>C	ENSP00000282516.8:p.Leu2410Pro
ENST00000448238.2:c.7229T>C	ENSP00000406266.2:p.Leu2410Pro
ENST00000514335.1:n.1111T>C
ENST00000621733.1:c.1-12046T>C	ENSP00000480694.1:n.1-12046T>C
NM_015384.4:c.7229T>C	NP_056199.2:p.Leu2410Pro
NM_133433.3:c.7229T>C	NP_597677.2:p.Leu2410Pro
XM_005248280.2:c.7229T>C	XP_005248337.1:p.Leu2410Pro
XM_005248282.3:c.6485T>C	XP_005248339.2:p.Leu2162Pro
XM_006714467.2:c.7229T>C	XP_006714530.1:p.Leu2410Pro
XM_006714468.1:c.7031T>C	XP_006714531.1:p.Leu2344Pro
XM_011514014.1:c.6848T>C	XP_011512316.1:p.Leu2283Pro
XM_011514015.1:c.7229T>C	XP_011512317.1:p.Leu2410Pro
XM_005248280.3:c.7229T>C	XP_005248337.1:p.Leu2410Pro
XM_005248282.5:c.6569T>C	XP_005248339.3:p.Leu2190Pro
XM_006714468.2:c.7031T>C	XP_006714531.1:p.Leu2344Pro
XM_017009329.1:c.7229T>C	XP_016864818.1:p.Leu2410Pro
XM_017009330.2:c.5612T>C	XP_016864819.1:p.Leu1871Pro
XM_017009331.1:c.5603T>C	XP_016864820.1:p.Leu1868Pro
NM_133433.4:c.7229T>C MANE Select	NP_597677.2:p.Leu2410Pro
NM_015384.5:c.7229T>C	NP_056199.2:p.Leu2410Pro