Canonical Allele Identifier: CA374361533

Gene: INVS

Linked Data

• MyVariant Identifiers: chr9:g.103002374G>T (hg19) ; chr9:g.100240092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100240092G>T , CM000671.2:g.100240092G>T	GRCh38
NC_000009.11:g.103002374G>T , CM000671.1:g.103002374G>T	GRCh37
NC_000009.10:g.102042195G>T	NCBI36
NG_008316.1:g.145864G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.648G>T MANE Select	ENSP00000262457.2:p.Trp216Cys
ENST00000262456.6:c.648G>T	ENSP00000262456.2:p.Trp216Cys
ENST00000262457.6:c.648G>T	ENSP00000262457.2:p.Trp216Cys
ENST00000460636.2:n.920G>T
NM_014425.3:c.648G>T	NP_055240.2:p.Trp216Cys
NM_183245.2:c.648G>T	NP_899068.1:p.Trp216Cys
NR_051962.1:n.957G>T
XM_005251923.3:c.648G>T	XP_005251980.1:p.Trp216Cys
XM_005251924.3:c.360G>T	XP_005251981.1:p.Trp120Cys
XM_011518531.1:c.648G>T	XP_011516833.1:p.Trp216Cys
XM_011518532.1:c.648G>T	XP_011516834.1:p.Trp216Cys
XM_011518533.1:c.648G>T	XP_011516835.1:p.Trp216Cys
XM_011518534.1:c.360G>T	XP_011516836.1:p.Trp120Cys
XM_011518535.1:c.360G>T	XP_011516837.1:p.Trp120Cys
XM_011518536.1:c.360G>T	XP_011516838.1:p.Trp120Cys
XM_011518537.1:c.360G>T	XP_011516839.1:p.Trp120Cys
XM_011518538.1:c.360G>T	XP_011516840.1:p.Trp120Cys
XM_011518539.1:c.327G>T	XP_011516841.1:p.Trp109Cys
XM_011518540.1:c.327G>T	XP_011516842.1:p.Trp109Cys
XM_011518541.1:c.327G>T	XP_011516843.1:p.Trp109Cys
XM_011518542.1:c.360G>T	XP_011516844.1:p.Trp120Cys
XM_011518543.1:c.-342G>T	XP_011516845.1:n.-342G>T
XR_242585.1:n.904G>T
XR_242586.1:n.904G>T
XR_428522.1:n.904G>T
NM_001318381.1:c.360G>T	NP_001305310.1:p.Trp120Cys
NM_001318382.1:c.-342G>T	NP_001305311.1:n.-342G>T
NM_014425.4:c.648G>T	NP_055240.2:p.Trp216Cys
NR_134606.1:n.904G>T
NM_014425.5:c.648G>T MANE Select	NP_055240.2:p.Trp216Cys
NM_001318381.2:c.360G>T	NP_001305310.1:p.Trp120Cys
NM_001318382.2:c.-342G>T	NP_001305311.1:n.-342G>T
NR_134606.2:n.846G>T