Canonical Allele Identifier: CA5158603

Gene: INVS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100292594G>C , CM000671.2:g.100292594G>C	GRCh38
NC_000009.11:g.103054876G>C , CM000671.1:g.103054876G>C	GRCh37
NC_000009.10:g.102094697G>C	NCBI36
NG_008316.1:g.198366G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014425.5:c.2337G>C MANE Select	NP_055240.2:p.Arg779=
ENST00000262457.7:c.2337G>C MANE Select	ENSP00000262457.2:p.Arg779=
NM_001318381.1:c.2049G>C	NP_001305310.1:p.Arg683=
NM_001318381.2:c.2049G>C	NP_001305310.1:p.Arg683=
NM_001318382.1:c.1359G>C	NP_001305311.1:p.Arg453=
NM_001318382.2:c.1359G>C	NP_001305311.1:p.Arg453=
NM_014425.3:c.2337G>C	NP_055240.2:p.Arg779=
NM_014425.4:c.2337G>C	NP_055240.2:p.Arg779=
NM_183245.2:c.2179+158G>C	NP_899068.1:n.2179+158G>C
NR_051962.1:n.2646G>C
NR_134606.1:n.2544G>C
NR_134606.2:n.2486G>C
ENST00000262456.6:c.2179+158G>C	ENSP00000262456.2:n.2179+158G>C
ENST00000262457.6:c.2337G>C	ENSP00000262457.2:p.Arg779=
XM_005251923.3:c.2337G>C	XP_005251980.1:p.Arg779=
XM_005251924.3:c.2049G>C	XP_005251981.1:p.Arg683=
XM_011518531.1:c.2337G>C	XP_011516833.1:p.Arg779=
XM_011518532.1:c.2337G>C	XP_011516834.1:p.Arg779=
XM_011518533.1:c.2337G>C	XP_011516835.1:p.Arg779=
XM_011518534.1:c.2049G>C	XP_011516836.1:p.Arg683=
XM_011518535.1:c.2049G>C	XP_011516837.1:p.Arg683=
XM_011518536.1:c.2049G>C	XP_011516838.1:p.Arg683=
XM_011518537.1:c.2049G>C	XP_011516839.1:p.Arg683=
XM_011518538.1:c.2049G>C	XP_011516840.1:p.Arg683=
XM_011518539.1:c.2016G>C	XP_011516841.1:p.Arg672=
XM_011518540.1:c.2016G>C	XP_011516842.1:p.Arg672=
XM_011518541.1:c.2016G>C	XP_011516843.1:p.Arg672=
XM_011518542.1:c.1891+158G>C	XP_011516844.1:n.1891+158G>C
XM_011518543.1:c.1359G>C	XP_011516845.1:p.Arg453=
XM_011518544.1:c.1359G>C	XP_011516846.1:p.Arg453=
XR_242585.1:n.2593G>C
XR_242586.1:n.2544G>C
XR_428522.1:n.2386+158G>C