Canonical Allele Identifier: CA1867729385

Gene: INVS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100292766C= , CM000671.2:g.100292766C=	GRCh38
NC_000009.11:g.103055048C= , CM000671.1:g.103055048C=	GRCh37
NC_000009.10:g.102094869C=	NCBI36
NG_008316.1:g.198538C=

Transcript Alleles

HGVS	Amino-acid Change
NM_014425.5:c.2509C= MANE Select	NP_055240.2:p.Gln837=
ENST00000262457.7:c.2509C= MANE Select	ENSP00000262457.2:p.Gln837=
NM_001318381.1:c.2221C=	NP_001305310.1:p.Gln741=
NM_001318381.2:c.2221C=	NP_001305310.1:p.Gln741=
NM_001318382.1:c.1531C=	NP_001305311.1:p.Gln511=
NM_001318382.2:c.1531C=	NP_001305311.1:p.Gln511=
NM_014425.3:c.2509C=	NP_055240.2:p.Gln837=
NM_014425.4:c.2509C=	NP_055240.2:p.Gln837=
NM_183245.2:c.2180-181C=	NP_899068.1:n.2180-181C=
NR_051962.1:n.2818C=
NR_134606.1:n.2716C=
NR_134606.2:n.2658C=
ENST00000262456.6:c.2180-181C=	ENSP00000262456.2:n.2180-181C=
ENST00000262457.6:c.2509C=	ENSP00000262457.2:p.Gln837=
XM_005251923.3:c.2509C=	XP_005251980.1:p.Gln837=
XM_005251924.3:c.2221C=	XP_005251981.1:p.Gln741=
XM_011518531.1:c.2509C=	XP_011516833.1:p.Gln837=
XM_011518532.1:c.2509C=	XP_011516834.1:p.Gln837=
XM_011518533.1:c.2509C=	XP_011516835.1:p.Gln837=
XM_011518534.1:c.2221C=	XP_011516836.1:p.Gln741=
XM_011518535.1:c.2221C=	XP_011516837.1:p.Gln741=
XM_011518536.1:c.2221C=	XP_011516838.1:p.Gln741=
XM_011518537.1:c.2221C=	XP_011516839.1:p.Gln741=
XM_011518538.1:c.2221C=	XP_011516840.1:p.Gln741=
XM_011518539.1:c.2188C=	XP_011516841.1:p.Gln730=
XM_011518540.1:c.2188C=	XP_011516842.1:p.Gln730=
XM_011518541.1:c.2188C=	XP_011516843.1:p.Gln730=
XM_011518542.1:c.1892-181C=	XP_011516844.1:n.1892-181C=
XM_011518543.1:c.1531C=	XP_011516845.1:p.Gln511=
XM_011518544.1:c.1531C=	XP_011516846.1:p.Gln511=
XR_242585.1:n.2765C=
XR_242586.1:n.2716C=
XR_428522.1:n.2387-181C=