Canonical Allele Identifier: CA359513359

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995741G>C (hg19) ; chr5:g.36995639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995639G>C , CM000667.2:g.36995639G>C	GRCh38
NC_000005.9:g.36995741G>C , CM000667.1:g.36995741G>C	GRCh37
NC_000005.8:g.37031498G>C	NCBI36
NG_006987.1:g.123757G>C
NG_006987.2:g.123757G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3139G>C MANE Select	ENSP00000282516.8:p.Val1047Leu
ENST00000652901.1:c.3139G>C	ENSP00000499536.1:p.Val1047Leu
ENST00000282516.12:c.3139G>C	ENSP00000282516.8:p.Val1047Leu
ENST00000448238.2:c.3139G>C	ENSP00000406266.2:p.Val1047Leu
ENST00000503274.1:n.490G>C
ENST00000504430.5:n.2759G>C
ENST00000621733.1:c.1-68939G>C	ENSP00000480694.1:n.1-68939G>C
NM_015384.4:c.3139G>C	NP_056199.2:p.Val1047Leu
NM_133433.3:c.3139G>C	NP_597677.2:p.Val1047Leu
XM_005248280.2:c.3139G>C	XP_005248337.1:p.Val1047Leu
XM_005248282.3:c.2395G>C	XP_005248339.2:p.Val799Leu
XM_006714467.2:c.3139G>C	XP_006714530.1:p.Val1047Leu
XM_006714468.1:c.3139G>C	XP_006714531.1:p.Val1047Leu
XM_011514014.1:c.3122-5178G>C	XP_011512316.1:n.3122-5178G>C
XM_011514015.1:c.3139G>C	XP_011512317.1:p.Val1047Leu
XM_005248280.3:c.3139G>C	XP_005248337.1:p.Val1047Leu
XM_005248282.5:c.2479G>C	XP_005248339.3:p.Val827Leu
XM_006714468.2:c.3139G>C	XP_006714531.1:p.Val1047Leu
XM_017009329.1:c.3139G>C	XP_016864818.1:p.Val1047Leu
XM_017009330.2:c.1522G>C	XP_016864819.1:p.Val508Leu
XM_017009331.1:c.1513G>C	XP_016864820.1:p.Val505Leu
NM_133433.4:c.3139G>C MANE Select	NP_597677.2:p.Val1047Leu
NM_015384.5:c.3139G>C	NP_056199.2:p.Val1047Leu