Canonical Allele Identifier: CA359517915

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1080230
• ClinVar RCV Id: RCV001395781
• dbSNP Id: rs1746665222
• gnomAD v4: 5-37000520-C-T
• COSMIC: COSM5900018 ; COSM5900019
• MyVariant Identifiers: chr5:g.37000622C>T (hg19) ; chr5:g.37000520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000520C>T , CM000667.2:g.37000520C>T	GRCh38
NC_000005.9:g.37000622C>T , CM000667.1:g.37000622C>T	GRCh37
NC_000005.8:g.37036379C>T	NCBI36
NG_006987.1:g.128638C>T
NG_006987.2:g.128638C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3452C>T MANE Select	ENSP00000282516.8:p.Pro1151Leu
ENST00000652901.1:c.3452C>T	ENSP00000499536.1:p.Pro1151Leu
ENST00000282516.12:c.3452C>T	ENSP00000282516.8:p.Pro1151Leu
ENST00000448238.2:c.3452C>T	ENSP00000406266.2:p.Pro1151Leu
ENST00000621733.1:c.1-64058C>T	ENSP00000480694.1:n.1-64058C>T
NM_015384.4:c.3452C>T	NP_056199.2:p.Pro1151Leu
NM_133433.3:c.3452C>T	NP_597677.2:p.Pro1151Leu
XM_005248280.2:c.3452C>T	XP_005248337.1:p.Pro1151Leu
XM_005248282.3:c.2708C>T	XP_005248339.2:p.Pro903Leu
XM_006714467.2:c.3452C>T	XP_006714530.1:p.Pro1151Leu
XM_006714468.1:c.3305-297C>T	XP_006714531.1:n.3305-297C>T
XM_011514014.1:c.3122-297C>T	XP_011512316.1:n.3122-297C>T
XM_011514015.1:c.3452C>T	XP_011512317.1:p.Pro1151Leu
XM_005248280.3:c.3452C>T	XP_005248337.1:p.Pro1151Leu
XM_005248282.5:c.2792C>T	XP_005248339.3:p.Pro931Leu
XM_006714468.2:c.3305-297C>T	XP_006714531.1:n.3305-297C>T
XM_017009329.1:c.3452C>T	XP_016864818.1:p.Pro1151Leu
XM_017009330.2:c.1835C>T	XP_016864819.1:p.Pro612Leu
XM_017009331.1:c.1826C>T	XP_016864820.1:p.Pro609Leu
NM_133433.4:c.3452C>T MANE Select	NP_597677.2:p.Pro1151Leu
NM_015384.5:c.3452C>T	NP_056199.2:p.Pro1151Leu