Canonical Allele Identifier: CA443916216

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37060874-T-C
• MyVariant Identifiers: chr5:g.37060976T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060874T>C , CM000667.2:g.37060874T>C	GRCh38
NC_000005.9:g.37060976T>C , CM000667.1:g.37060976T>C	GRCh37
NC_000005.8:g.37096733T>C	NCBI36
NG_006987.1:g.188992T>C
NG_006987.2:g.188992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7716T>C MANE Select	ENSP00000282516.8:p.Ser2572=
ENST00000652901.1:c.7569T>C	ENSP00000499536.1:p.Ser2523=
ENST00000282516.12:c.7716T>C	ENSP00000282516.8:p.Ser2572=
ENST00000448238.2:c.7716T>C	ENSP00000406266.2:p.Ser2572=
ENST00000513819.1:c.263+1709T>C	ENSP00000421504.1:n.263+1709T>C
ENST00000514335.1:n.1598T>C
ENST00000621733.1:c.1-3704T>C	ENSP00000480694.1:n.1-3704T>C
NM_015384.4:c.7716T>C	NP_056199.2:p.Ser2572=
NM_133433.3:c.7716T>C	NP_597677.2:p.Ser2572=
XM_005248280.2:c.7716T>C	XP_005248337.1:p.Ser2572=
XM_005248282.3:c.6972T>C	XP_005248339.2:p.Ser2324=
XM_006714467.2:c.7569T>C	XP_006714530.1:p.Ser2523=
XM_006714468.1:c.7518T>C	XP_006714531.1:p.Ser2506=
XM_011514014.1:c.7335T>C	XP_011512316.1:p.Ser2445=
XM_011514015.1:c.*28T>C	XP_011512317.1:n.*28T>C
XM_005248280.3:c.7716T>C	XP_005248337.1:p.Ser2572=
XM_005248282.5:c.7056T>C	XP_005248339.3:p.Ser2352=
XM_006714468.2:c.7518T>C	XP_006714531.1:p.Ser2506=
XM_017009329.1:c.7569T>C	XP_016864818.1:p.Ser2523=
XM_017009330.2:c.6099T>C	XP_016864819.1:p.Ser2033=
XM_017009331.1:c.6090T>C	XP_016864820.1:p.Ser2030=
NM_133433.4:c.7716T>C MANE Select	NP_597677.2:p.Ser2572=
NM_015384.5:c.7716T>C	NP_056199.2:p.Ser2572=