Canonical Allele Identifier: CA359483269

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36975996G>C (hg19) ; chr5:g.36975894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975894G>C , CM000667.2:g.36975894G>C	GRCh38
NC_000005.9:g.36975996G>C , CM000667.1:g.36975996G>C	GRCh37
NC_000005.8:g.37011753G>C	NCBI36
NG_006987.1:g.104012G>C
NG_006987.2:g.104012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.987G>C MANE Select	ENSP00000282516.8:p.Met329Ile
ENST00000652901.1:c.987G>C	ENSP00000499536.1:p.Met329Ile
ENST00000282516.12:c.987G>C	ENSP00000282516.8:p.Met329Ile
ENST00000448238.2:c.987G>C	ENSP00000406266.2:p.Met329Ile
ENST00000504430.5:n.607G>C
ENST00000505998.5:n.966G>C
ENST00000621733.1:c.1-88684G>C	ENSP00000480694.1:n.1-88684G>C
NM_015384.4:c.987G>C	NP_056199.2:p.Met329Ile
NM_133433.3:c.987G>C	NP_597677.2:p.Met329Ile
XM_005248280.2:c.987G>C	XP_005248337.1:p.Met329Ile
XM_005248282.3:c.243G>C	XP_005248339.2:p.Met81Ile
XM_006714467.2:c.987G>C	XP_006714530.1:p.Met329Ile
XM_006714468.1:c.987G>C	XP_006714531.1:p.Met329Ile
XM_011514014.1:c.987G>C	XP_011512316.1:p.Met329Ile
XM_011514015.1:c.987G>C	XP_011512317.1:p.Met329Ile
XM_005248280.3:c.987G>C	XP_005248337.1:p.Met329Ile
XM_005248282.5:c.327G>C	XP_005248339.3:p.Met109Ile
XM_006714468.2:c.987G>C	XP_006714531.1:p.Met329Ile
XM_017009329.1:c.987G>C	XP_016864818.1:p.Met329Ile
XM_017009331.1:c.987G>C	XP_016864820.1:p.Met329Ile
NM_133433.4:c.987G>C MANE Select	NP_597677.2:p.Met329Ile
NM_015384.5:c.987G>C	NP_056199.2:p.Met329Ile