Canonical Allele Identifier: CA359518436

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37060885-A-T
• MyVariant Identifiers: chr5:g.37060987A>T (hg19) ; chr5:g.37060885A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060885A>T , CM000667.2:g.37060885A>T	GRCh38
NC_000005.9:g.37060987A>T , CM000667.1:g.37060987A>T	GRCh37
NC_000005.8:g.37096744A>T	NCBI36
NG_006987.1:g.189003A>T
NG_006987.2:g.189003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7727A>T MANE Select	ENSP00000282516.8:p.Tyr2576Phe
ENST00000652901.1:c.7580A>T	ENSP00000499536.1:p.Tyr2527Phe
ENST00000282516.12:c.7727A>T	ENSP00000282516.8:p.Tyr2576Phe
ENST00000448238.2:c.7727A>T	ENSP00000406266.2:p.Tyr2576Phe
ENST00000513819.1:c.263+1720A>T	ENSP00000421504.1:n.263+1720A>T
ENST00000514335.1:n.1609A>T
ENST00000621733.1:c.1-3693A>T	ENSP00000480694.1:n.1-3693A>T
NM_015384.4:c.7727A>T	NP_056199.2:p.Tyr2576Phe
NM_133433.3:c.7727A>T	NP_597677.2:p.Tyr2576Phe
XM_005248280.2:c.7727A>T	XP_005248337.1:p.Tyr2576Phe
XM_005248282.3:c.6983A>T	XP_005248339.2:p.Tyr2328Phe
XM_006714467.2:c.7580A>T	XP_006714530.1:p.Tyr2527Phe
XM_006714468.1:c.7529A>T	XP_006714531.1:p.Tyr2510Phe
XM_011514014.1:c.7346A>T	XP_011512316.1:p.Tyr2449Phe
XM_011514015.1:c.*39A>T	XP_011512317.1:n.*39A>T
XM_005248280.3:c.7727A>T	XP_005248337.1:p.Tyr2576Phe
XM_005248282.5:c.7067A>T	XP_005248339.3:p.Tyr2356Phe
XM_006714468.2:c.7529A>T	XP_006714531.1:p.Tyr2510Phe
XM_017009329.1:c.7580A>T	XP_016864818.1:p.Tyr2527Phe
XM_017009330.2:c.6110A>T	XP_016864819.1:p.Tyr2037Phe
XM_017009331.1:c.6101A>T	XP_016864820.1:p.Tyr2034Phe
NM_133433.4:c.7727A>T MANE Select	NP_597677.2:p.Tyr2576Phe
NM_015384.5:c.7727A>T	NP_056199.2:p.Tyr2576Phe