Canonical Allele Identifier: CA443904355

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37000521-G-T
• MyVariant Identifiers: chr5:g.37000623G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000521G>T , CM000667.2:g.37000521G>T	GRCh38
NC_000005.9:g.37000623G>T , CM000667.1:g.37000623G>T	GRCh37
NC_000005.8:g.37036380G>T	NCBI36
NG_006987.1:g.128639G>T
NG_006987.2:g.128639G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3453G>T MANE Select	ENSP00000282516.8:p.Pro1151=
ENST00000652901.1:c.3453G>T	ENSP00000499536.1:p.Pro1151=
ENST00000282516.12:c.3453G>T	ENSP00000282516.8:p.Pro1151=
ENST00000448238.2:c.3453G>T	ENSP00000406266.2:p.Pro1151=
ENST00000621733.1:c.1-64057G>T	ENSP00000480694.1:n.1-64057G>T
NM_015384.4:c.3453G>T	NP_056199.2:p.Pro1151=
NM_133433.3:c.3453G>T	NP_597677.2:p.Pro1151=
XM_005248280.2:c.3453G>T	XP_005248337.1:p.Pro1151=
XM_005248282.3:c.2709G>T	XP_005248339.2:p.Pro903=
XM_006714467.2:c.3453G>T	XP_006714530.1:p.Pro1151=
XM_006714468.1:c.3305-296G>T	XP_006714531.1:n.3305-296G>T
XM_011514014.1:c.3122-296G>T	XP_011512316.1:n.3122-296G>T
XM_011514015.1:c.3453G>T	XP_011512317.1:p.Pro1151=
XM_005248280.3:c.3453G>T	XP_005248337.1:p.Pro1151=
XM_005248282.5:c.2793G>T	XP_005248339.3:p.Pro931=
XM_006714468.2:c.3305-296G>T	XP_006714531.1:n.3305-296G>T
XM_017009329.1:c.3453G>T	XP_016864818.1:p.Pro1151=
XM_017009330.2:c.1836G>T	XP_016864819.1:p.Pro612=
XM_017009331.1:c.1827G>T	XP_016864820.1:p.Pro609=
NM_133433.4:c.3453G>T MANE Select	NP_597677.2:p.Pro1151=
NM_015384.5:c.3453G>T	NP_056199.2:p.Pro1151=