Canonical Allele Identifier: CA242104

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 195627
• ClinVar RCV Id: RCV000176236
• dbSNP Id: rs794727348
• MyVariant Identifiers: chr5:g.37010287C>T (hg19) ; chr5:g.37010185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010185C>T , CM000667.2:g.37010185C>T	GRCh38
NC_000005.9:g.37010287C>T , CM000667.1:g.37010287C>T	GRCh37
NC_000005.8:g.37046044C>T	NCBI36
NG_006987.1:g.138303C>T
NG_006987.2:g.138303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4520C>T MANE Select	ENSP00000282516.8:p.Ser1507Leu
ENST00000652901.1:c.4520C>T	ENSP00000499536.1:p.Ser1507Leu
ENST00000282516.12:c.4520C>T	ENSP00000282516.8:p.Ser1507Leu
ENST00000448238.2:c.4520C>T	ENSP00000406266.2:p.Ser1507Leu
ENST00000621733.1:c.1-54393C>T	ENSP00000480694.1:n.1-54393C>T
NM_015384.4:c.4520C>T	NP_056199.2:p.Ser1507Leu
NM_133433.3:c.4520C>T	NP_597677.2:p.Ser1507Leu
XM_005248280.2:c.4520C>T	XP_005248337.1:p.Ser1507Leu
XM_005248282.3:c.3776C>T	XP_005248339.2:p.Ser1259Leu
XM_006714467.2:c.4520C>T	XP_006714530.1:p.Ser1507Leu
XM_006714468.1:c.4322C>T	XP_006714531.1:p.Ser1441Leu
XM_011514014.1:c.4139C>T	XP_011512316.1:p.Ser1380Leu
XM_011514015.1:c.4520C>T	XP_011512317.1:p.Ser1507Leu
XM_005248280.3:c.4520C>T	XP_005248337.1:p.Ser1507Leu
XM_005248282.5:c.3860C>T	XP_005248339.3:p.Ser1287Leu
XM_006714468.2:c.4322C>T	XP_006714531.1:p.Ser1441Leu
XM_017009329.1:c.4520C>T	XP_016864818.1:p.Ser1507Leu
XM_017009330.2:c.2903C>T	XP_016864819.1:p.Ser968Leu
XM_017009331.1:c.2894C>T	XP_016864820.1:p.Ser965Leu
NM_133433.4:c.4520C>T MANE Select	NP_597677.2:p.Ser1507Leu
NM_015384.5:c.4520C>T	NP_056199.2:p.Ser1507Leu