Canonical Allele Identifier: CA3236425

Gene: NIPBL

Linked Data

• dbSNP Id: rs749108200
• ExAC: 5:37003322 T / G
• gnomAD v2: 5-37003322-T-G
• gnomAD v4: 5-37003220-T-G
• MyVariant Identifiers: chr5:g.37003322T>G (hg19) ; chr5:g.37003220T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37003220T>G , CM000667.2:g.37003220T>G	GRCh38
NC_000005.9:g.37003322T>G , CM000667.1:g.37003322T>G	GRCh37
NC_000005.8:g.37039079T>G	NCBI36
NG_006987.1:g.131338T>G
NG_006987.2:g.131338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3769-41T>G MANE Select	ENSP00000282516.8:n.3769-41T>G
ENST00000652901.1:c.3769-41T>G	ENSP00000499536.1:n.3769-41T>G
ENST00000282516.12:c.3769-41T>G	ENSP00000282516.8:n.3769-41T>G
ENST00000448238.2:c.3769-41T>G	ENSP00000406266.2:n.3769-41T>G
ENST00000621733.1:c.1-61358T>G	ENSP00000480694.1:n.1-61358T>G
NM_015384.4:c.3769-41T>G	NP_056199.2:n.3769-41T>G
NM_133433.3:c.3769-41T>G	NP_597677.2:n.3769-41T>G
XM_005248280.2:c.3769-41T>G	XP_005248337.1:n.3769-41T>G
XM_005248282.3:c.3025-41T>G	XP_005248339.2:n.3025-41T>G
XM_006714467.2:c.3769-41T>G	XP_006714530.1:n.3769-41T>G
XM_006714468.1:c.3571-41T>G	XP_006714531.1:n.3571-41T>G
XM_011514014.1:c.3388-41T>G	XP_011512316.1:n.3388-41T>G
XM_011514015.1:c.3769-41T>G	XP_011512317.1:n.3769-41T>G
XM_005248280.3:c.3769-41T>G	XP_005248337.1:n.3769-41T>G
XM_005248282.5:c.3109-41T>G	XP_005248339.3:n.3109-41T>G
XM_006714468.2:c.3571-41T>G	XP_006714531.1:n.3571-41T>G
XM_017009329.1:c.3769-41T>G	XP_016864818.1:n.3769-41T>G
XM_017009330.2:c.2152-41T>G	XP_016864819.1:n.2152-41T>G
XM_017009331.1:c.2143-41T>G	XP_016864820.1:n.2143-41T>G
NM_133433.4:c.3769-41T>G MANE Select	NP_597677.2:n.3769-41T>G
NM_015384.5:c.3769-41T>G	NP_056199.2:n.3769-41T>G