Canonical Allele Identifier: CA359508790

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37049257G>T (hg19) ; chr5:g.37049155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049155G>T , CM000667.2:g.37049155G>T	GRCh38
NC_000005.9:g.37049257G>T , CM000667.1:g.37049257G>T	GRCh37
NC_000005.8:g.37085014G>T	NCBI36
NG_006987.1:g.177273G>T
NG_006987.2:g.177273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6808G>T MANE Select	ENSP00000282516.8:p.Val2270Phe
ENST00000652901.1:c.6808G>T	ENSP00000499536.1:p.Val2270Phe
ENST00000282516.12:c.6808G>T	ENSP00000282516.8:p.Val2270Phe
ENST00000448238.2:c.6808G>T	ENSP00000406266.2:p.Val2270Phe
ENST00000621733.1:c.1-15423G>T	ENSP00000480694.1:n.1-15423G>T
NM_015384.4:c.6808G>T	NP_056199.2:p.Val2270Phe
NM_133433.3:c.6808G>T	NP_597677.2:p.Val2270Phe
XM_005248280.2:c.6808G>T	XP_005248337.1:p.Val2270Phe
XM_005248282.3:c.6064G>T	XP_005248339.2:p.Val2022Phe
XM_006714467.2:c.6808G>T	XP_006714530.1:p.Val2270Phe
XM_006714468.1:c.6610G>T	XP_006714531.1:p.Val2204Phe
XM_011514014.1:c.6427G>T	XP_011512316.1:p.Val2143Phe
XM_011514015.1:c.6808G>T	XP_011512317.1:p.Val2270Phe
XM_005248280.3:c.6808G>T	XP_005248337.1:p.Val2270Phe
XM_005248282.5:c.6148G>T	XP_005248339.3:p.Val2050Phe
XM_006714468.2:c.6610G>T	XP_006714531.1:p.Val2204Phe
XM_017009329.1:c.6808G>T	XP_016864818.1:p.Val2270Phe
XM_017009330.2:c.5191G>T	XP_016864819.1:p.Val1731Phe
XM_017009331.1:c.5182G>T	XP_016864820.1:p.Val1728Phe
NM_133433.4:c.6808G>T MANE Select	NP_597677.2:p.Val2270Phe
NM_015384.5:c.6808G>T	NP_056199.2:p.Val2270Phe