Canonical Allele Identifier: CA359514114

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995873G>C (hg19) ; chr5:g.36995771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995771G>C , CM000667.2:g.36995771G>C	GRCh38
NC_000005.9:g.36995873G>C , CM000667.1:g.36995873G>C	GRCh37
NC_000005.8:g.37031630G>C	NCBI36
NG_006987.1:g.123889G>C
NG_006987.2:g.123889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3271G>C MANE Select	ENSP00000282516.8:p.Asp1091His
ENST00000652901.1:c.3271G>C	ENSP00000499536.1:p.Asp1091His
ENST00000282516.12:c.3271G>C	ENSP00000282516.8:p.Asp1091His
ENST00000448238.2:c.3271G>C	ENSP00000406266.2:p.Asp1091His
ENST00000503274.1:n.622G>C
ENST00000504430.5:n.2891G>C
ENST00000509429.1:n.22G>C
ENST00000621733.1:c.1-68807G>C	ENSP00000480694.1:n.1-68807G>C
NM_015384.4:c.3271G>C	NP_056199.2:p.Asp1091His
NM_133433.3:c.3271G>C	NP_597677.2:p.Asp1091His
XM_005248280.2:c.3271G>C	XP_005248337.1:p.Asp1091His
XM_005248282.3:c.2527G>C	XP_005248339.2:p.Asp843His
XM_006714467.2:c.3271G>C	XP_006714530.1:p.Asp1091His
XM_006714468.1:c.3271G>C	XP_006714531.1:p.Asp1091His
XM_011514014.1:c.3122-5046G>C	XP_011512316.1:n.3122-5046G>C
XM_011514015.1:c.3271G>C	XP_011512317.1:p.Asp1091His
XM_005248280.3:c.3271G>C	XP_005248337.1:p.Asp1091His
XM_005248282.5:c.2611G>C	XP_005248339.3:p.Asp871His
XM_006714468.2:c.3271G>C	XP_006714531.1:p.Asp1091His
XM_017009329.1:c.3271G>C	XP_016864818.1:p.Asp1091His
XM_017009330.2:c.1654G>C	XP_016864819.1:p.Asp552His
XM_017009331.1:c.1645G>C	XP_016864820.1:p.Asp549His
NM_133433.4:c.3271G>C MANE Select	NP_597677.2:p.Asp1091His
NM_015384.5:c.3271G>C	NP_056199.2:p.Asp1091His