Canonical Allele Identifier: CA559024336

Gene: NIPBL

Linked Data

• dbSNP Id: rs1408904291
• gnomAD v2: 5-37010181-C-T
• gnomAD v4: 5-37010079-C-T
• MyVariant Identifiers: chr5:g.37010181C>T (hg19) ; chr5:g.37010079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010079C>T , CM000667.2:g.37010079C>T	GRCh38
NC_000005.9:g.37010181C>T , CM000667.1:g.37010181C>T	GRCh37
NC_000005.8:g.37045938C>T	NCBI36
NG_006987.1:g.138197C>T
NG_006987.2:g.138197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4422-8C>T MANE Select	ENSP00000282516.8:n.4422-8C>T
ENST00000652901.1:c.4422-8C>T	ENSP00000499536.1:n.4422-8C>T
ENST00000282516.12:c.4422-8C>T	ENSP00000282516.8:n.4422-8C>T
ENST00000448238.2:c.4422-8C>T	ENSP00000406266.2:n.4422-8C>T
ENST00000621733.1:c.1-54499C>T	ENSP00000480694.1:n.1-54499C>T
NM_015384.4:c.4422-8C>T	NP_056199.2:n.4422-8C>T
NM_133433.3:c.4422-8C>T	NP_597677.2:n.4422-8C>T
XM_005248280.2:c.4422-8C>T	XP_005248337.1:n.4422-8C>T
XM_005248282.3:c.3678-8C>T	XP_005248339.2:n.3678-8C>T
XM_006714467.2:c.4422-8C>T	XP_006714530.1:n.4422-8C>T
XM_006714468.1:c.4224-8C>T	XP_006714531.1:n.4224-8C>T
XM_011514014.1:c.4041-8C>T	XP_011512316.1:n.4041-8C>T
XM_011514015.1:c.4422-8C>T	XP_011512317.1:n.4422-8C>T
XM_005248280.3:c.4422-8C>T	XP_005248337.1:n.4422-8C>T
XM_005248282.5:c.3762-8C>T	XP_005248339.3:n.3762-8C>T
XM_006714468.2:c.4224-8C>T	XP_006714531.1:n.4224-8C>T
XM_017009329.1:c.4422-8C>T	XP_016864818.1:n.4422-8C>T
XM_017009330.2:c.2805-8C>T	XP_016864819.1:n.2805-8C>T
XM_017009331.1:c.2796-8C>T	XP_016864820.1:n.2796-8C>T
NM_133433.4:c.4422-8C>T MANE Select	NP_597677.2:n.4422-8C>T
NM_015384.5:c.4422-8C>T	NP_056199.2:n.4422-8C>T