Canonical Allele Identifier: CA443904570

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37001134A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001032A>C , CM000667.2:g.37001032A>C	GRCh38
NC_000005.9:g.37001134A>C , CM000667.1:g.37001134A>C	GRCh37
NC_000005.8:g.37036891A>C	NCBI36
NG_006987.1:g.129150A>C
NG_006987.2:g.129150A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3618A>C MANE Select	ENSP00000282516.8:p.Ile1206=
ENST00000652901.1:c.3618A>C	ENSP00000499536.1:p.Ile1206=
ENST00000282516.12:c.3618A>C	ENSP00000282516.8:p.Ile1206=
ENST00000448238.2:c.3618A>C	ENSP00000406266.2:p.Ile1206=
ENST00000621733.1:c.1-63546A>C	ENSP00000480694.1:n.1-63546A>C
NM_015384.4:c.3618A>C	NP_056199.2:p.Ile1206=
NM_133433.3:c.3618A>C	NP_597677.2:p.Ile1206=
XM_005248280.2:c.3618A>C	XP_005248337.1:p.Ile1206=
XM_005248282.3:c.2874A>C	XP_005248339.2:p.Ile958=
XM_006714467.2:c.3618A>C	XP_006714530.1:p.Ile1206=
XM_006714468.1:c.3420A>C	XP_006714531.1:p.Ile1140=
XM_011514014.1:c.3237A>C	XP_011512316.1:p.Ile1079=
XM_011514015.1:c.3618A>C	XP_011512317.1:p.Ile1206=
XM_005248280.3:c.3618A>C	XP_005248337.1:p.Ile1206=
XM_005248282.5:c.2958A>C	XP_005248339.3:p.Ile986=
XM_006714468.2:c.3420A>C	XP_006714531.1:p.Ile1140=
XM_017009329.1:c.3618A>C	XP_016864818.1:p.Ile1206=
XM_017009330.2:c.2001A>C	XP_016864819.1:p.Ile667=
XM_017009331.1:c.1992A>C	XP_016864820.1:p.Ile664=
NM_133433.4:c.3618A>C MANE Select	NP_597677.2:p.Ile1206=
NM_015384.5:c.3618A>C	NP_056199.2:p.Ile1206=