Canonical Allele Identifier: CA343875223

Gene: IVNS1ABP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185298065C>T , CM000663.2:g.185298065C>T	GRCh38
NC_000001.10:g.185267197C>T , CM000663.1:g.185267197C>T	GRCh37
NC_000001.9:g.183533820C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006469.5:c.1899G>A MANE Select	NP_006460.2:p.Trp633Ter
ENST00000367498.8:c.1899G>A MANE Select	ENSP00000356468.3:p.Trp633Ter
NM_006469.4:c.1899G>A	NP_006460.2:p.Trp633Ter
ENST00000367498.7:c.1899G>A	ENSP00000356468.3:p.Trp633Ter
ENST00000459929.5:n.2607G>A
ENST00000475046.5:n.1522G>A
ENST00000480769.5:n.2099G>A
XM_005244843.2:c.1245G>A	XP_005244900.1:p.Trp415Ter
XM_005244843.3:c.1245G>A	XP_005244900.1:p.Trp415Ter
XM_011509079.1:c.1920G>A	XP_011507381.1:p.Trp640Ter
XM_011509079.3:c.1920G>A	XP_011507381.1:p.Trp640Ter
XM_011509080.1:c.1653G>A	XP_011507382.1:p.Trp551Ter
XM_011509080.3:c.1653G>A	XP_011507382.1:p.Trp551Ter
XM_011509081.1:c.1266G>A	XP_011507383.1:p.Trp422Ter
XM_017000084.1:c.1266G>A	XP_016855573.1:p.Trp422Ter