Canonical Allele Identifier: CA117450138

Gene: NIPBL

Linked Data

• dbSNP Id: rs80060072
• gnomAD v3: 5-36900753-C-T
• gnomAD v4: 5-36900753-C-T
• MyVariant Identifiers: chr5:g.36900855C>T (hg19) ; chr5:g.36900753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36900753C>T , CM000667.2:g.36900753C>T	GRCh38
NC_000005.9:g.36900855C>T , CM000667.1:g.36900855C>T	GRCh37
NC_000005.8:g.36936612C>T	NCBI36
NG_006987.1:g.28871C>T
NG_006987.2:g.28871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-80+23575C>T MANE Select	ENSP00000282516.8:n.-80+23575C>T
ENST00000652901.1:c.-80+23575C>T	ENSP00000499536.1:n.-80+23575C>T
ENST00000282516.12:c.-80+23575C>T	ENSP00000282516.8:n.-80+23575C>T
ENST00000448238.2:c.-80+23575C>T	ENSP00000406266.2:n.-80+23575C>T
ENST00000621733.1:c.-1+23731C>T	ENSP00000480694.1:n.-1+23731C>T
NM_015384.4:c.-80+23575C>T	NP_056199.2:n.-80+23575C>T
NM_133433.3:c.-80+23575C>T	NP_597677.2:n.-80+23575C>T
XM_005248280.2:c.-80+23575C>T	XP_005248337.1:n.-80+23575C>T
XM_006714467.2:c.-80+23575C>T	XP_006714530.1:n.-80+23575C>T
XM_006714468.1:c.-80+23575C>T	XP_006714531.1:n.-80+23575C>T
XM_011514014.1:c.-80+23575C>T	XP_011512316.1:n.-80+23575C>T
XM_011514015.1:c.-80+23575C>T	XP_011512317.1:n.-80+23575C>T
XM_005248280.3:c.-80+23575C>T	XP_005248337.1:n.-80+23575C>T
XM_006714468.2:c.-80+23575C>T	XP_006714531.1:n.-80+23575C>T
XM_017009329.1:c.-80+23575C>T	XP_016864818.1:n.-80+23575C>T
XM_017009331.1:c.-80+23575C>T	XP_016864820.1:n.-80+23575C>T
NM_133433.4:c.-80+23575C>T MANE Select	NP_597677.2:n.-80+23575C>T
NM_015384.5:c.-80+23575C>T	NP_056199.2:n.-80+23575C>T