Canonical Allele Identifier: CA444094864

Gene: NIPBL

Linked Data

• dbSNP Id: rs1451900106
• gnomAD v2: 5-36976429-T-C
• gnomAD v4: 5-36976327-T-C
• MyVariant Identifiers: chr5:g.36976429T>C (hg19) ; chr5:g.36976327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976327T>C , CM000667.2:g.36976327T>C	GRCh38
NC_000005.9:g.36976429T>C , CM000667.1:g.36976429T>C	GRCh37
NC_000005.8:g.37012186T>C	NCBI36
NG_006987.1:g.104445T>C
NG_006987.2:g.104445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1420T>C MANE Select	ENSP00000282516.8:p.Leu474=
ENST00000652901.1:c.1420T>C	ENSP00000499536.1:p.Leu474=
ENST00000282516.12:c.1420T>C	ENSP00000282516.8:p.Leu474=
ENST00000448238.2:c.1420T>C	ENSP00000406266.2:p.Leu474=
ENST00000504430.5:n.1040T>C
ENST00000621733.1:c.1-88251T>C	ENSP00000480694.1:n.1-88251T>C
NM_015384.4:c.1420T>C	NP_056199.2:p.Leu474=
NM_133433.3:c.1420T>C	NP_597677.2:p.Leu474=
XM_005248280.2:c.1420T>C	XP_005248337.1:p.Leu474=
XM_005248282.3:c.676T>C	XP_005248339.2:p.Leu226=
XM_006714467.2:c.1420T>C	XP_006714530.1:p.Leu474=
XM_006714468.1:c.1420T>C	XP_006714531.1:p.Leu474=
XM_011514014.1:c.1420T>C	XP_011512316.1:p.Leu474=
XM_011514015.1:c.1420T>C	XP_011512317.1:p.Leu474=
XM_005248280.3:c.1420T>C	XP_005248337.1:p.Leu474=
XM_005248282.5:c.760T>C	XP_005248339.3:p.Leu254=
XM_006714468.2:c.1420T>C	XP_006714531.1:p.Leu474=
XM_017009329.1:c.1420T>C	XP_016864818.1:p.Leu474=
XM_017009331.1:c.1420T>C	XP_016864820.1:p.Leu474=
NM_133433.4:c.1420T>C MANE Select	NP_597677.2:p.Leu474=
NM_015384.5:c.1420T>C	NP_056199.2:p.Leu474=