Canonical Allele Identifier: CA1867745629

Gene: INVS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100264835T= , CM000671.2:g.100264835T=	GRCh38
NC_000009.11:g.103027117T= , CM000671.1:g.103027117T=	GRCh37
NC_000009.10:g.102066938T=	NCBI36
NG_008316.1:g.170607T=

Transcript Alleles

HGVS	Amino-acid Change
NM_014425.5:c.1478T= MANE Select	NP_055240.2:p.Leu493=
ENST00000262457.7:c.1478T= MANE Select	ENSP00000262457.2:p.Leu493=
NM_001318381.1:c.1190T=	NP_001305310.1:p.Leu397=
NM_001318381.2:c.1190T=	NP_001305310.1:p.Leu397=
NM_001318382.1:c.500T=	NP_001305311.1:p.Leu167=
NM_001318382.2:c.500T=	NP_001305311.1:p.Leu167=
NM_014425.3:c.1478T=	NP_055240.2:p.Leu493=
NM_014425.4:c.1478T=	NP_055240.2:p.Leu493=
NM_183245.2:c.1478T=	NP_899068.1:p.Leu493=
NR_051962.1:n.1787T=
NR_134606.1:n.1734T=
NR_134606.2:n.1676T=
ENST00000262456.6:c.1478T=	ENSP00000262456.2:p.Leu493=
ENST00000262457.6:c.1478T=	ENSP00000262457.2:p.Leu493=
XM_005251923.3:c.1478T=	XP_005251980.1:p.Leu493=
XM_005251924.3:c.1190T=	XP_005251981.1:p.Leu397=
XM_011518531.1:c.1478T=	XP_011516833.1:p.Leu493=
XM_011518532.1:c.1478T=	XP_011516834.1:p.Leu493=
XM_011518533.1:c.1478T=	XP_011516835.1:p.Leu493=
XM_011518534.1:c.1190T=	XP_011516836.1:p.Leu397=
XM_011518535.1:c.1190T=	XP_011516837.1:p.Leu397=
XM_011518536.1:c.1190T=	XP_011516838.1:p.Leu397=
XM_011518537.1:c.1190T=	XP_011516839.1:p.Leu397=
XM_011518538.1:c.1190T=	XP_011516840.1:p.Leu397=
XM_011518539.1:c.1157T=	XP_011516841.1:p.Leu386=
XM_011518540.1:c.1157T=	XP_011516842.1:p.Leu386=
XM_011518541.1:c.1157T=	XP_011516843.1:p.Leu386=
XM_011518542.1:c.1190T=	XP_011516844.1:p.Leu397=
XM_011518543.1:c.500T=	XP_011516845.1:p.Leu167=
XM_011518544.1:c.500T=	XP_011516846.1:p.Leu167=
XR_242585.1:n.1734T=
XR_242586.1:n.1734T=
XR_428522.1:n.1734T=