Canonical Allele Identifier: CA359510417

Gene: NIPBL

Linked Data

• dbSNP Id: rs1280725123
• gnomAD v2: 5-37051932-A-T
• gnomAD v4: 5-37051830-A-T
• MyVariant Identifiers: chr5:g.37051932A>T (hg19) ; chr5:g.37051830A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051830A>T , CM000667.2:g.37051830A>T	GRCh38
NC_000005.9:g.37051932A>T , CM000667.1:g.37051932A>T	GRCh37
NC_000005.8:g.37087689A>T	NCBI36
NG_006987.1:g.179948A>T
NG_006987.2:g.179948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7006A>T MANE Select	ENSP00000282516.8:p.Asn2336Tyr
ENST00000652901.1:c.7006A>T	ENSP00000499536.1:p.Asn2336Tyr
ENST00000282516.12:c.7006A>T	ENSP00000282516.8:p.Asn2336Tyr
ENST00000448238.2:c.7006A>T	ENSP00000406266.2:p.Asn2336Tyr
ENST00000514335.1:n.888A>T
ENST00000621733.1:c.1-12748A>T	ENSP00000480694.1:n.1-12748A>T
NM_015384.4:c.7006A>T	NP_056199.2:p.Asn2336Tyr
NM_133433.3:c.7006A>T	NP_597677.2:p.Asn2336Tyr
XM_005248280.2:c.7006A>T	XP_005248337.1:p.Asn2336Tyr
XM_005248282.3:c.6262A>T	XP_005248339.2:p.Asn2088Tyr
XM_006714467.2:c.7006A>T	XP_006714530.1:p.Asn2336Tyr
XM_006714468.1:c.6808A>T	XP_006714531.1:p.Asn2270Tyr
XM_011514014.1:c.6625A>T	XP_011512316.1:p.Asn2209Tyr
XM_011514015.1:c.7006A>T	XP_011512317.1:p.Asn2336Tyr
XM_005248280.3:c.7006A>T	XP_005248337.1:p.Asn2336Tyr
XM_005248282.5:c.6346A>T	XP_005248339.3:p.Asn2116Tyr
XM_006714468.2:c.6808A>T	XP_006714531.1:p.Asn2270Tyr
XM_017009329.1:c.7006A>T	XP_016864818.1:p.Asn2336Tyr
XM_017009330.2:c.5389A>T	XP_016864819.1:p.Asn1797Tyr
XM_017009331.1:c.5380A>T	XP_016864820.1:p.Asn1794Tyr
NM_133433.4:c.7006A>T MANE Select	NP_597677.2:p.Asn2336Tyr
NM_015384.5:c.7006A>T	NP_056199.2:p.Asn2336Tyr