Canonical Allele Identifier: CA5158211

Gene: INVS

Linked Data

• dbSNP Id: rs770938747
• ExAC: 9:103002352 C / T
• gnomAD v2: 9-103002352-C-T
• gnomAD v4: 9-100240070-C-T
• MyVariant Identifiers: chr9:g.103002352C>T (hg19) ; chr9:g.100240070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100240070C>T , CM000671.2:g.100240070C>T	GRCh38
NC_000009.11:g.103002352C>T , CM000671.1:g.103002352C>T	GRCh37
NC_000009.10:g.102042173C>T	NCBI36
NG_008316.1:g.145842C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262457.7:c.626C>T MANE Select	ENSP00000262457.2:p.Pro209Leu
ENST00000262456.6:c.626C>T	ENSP00000262456.2:p.Pro209Leu
ENST00000262457.6:c.626C>T	ENSP00000262457.2:p.Pro209Leu
ENST00000460636.2:n.898C>T
NM_014425.3:c.626C>T	NP_055240.2:p.Pro209Leu
NM_183245.2:c.626C>T	NP_899068.1:p.Pro209Leu
NR_051962.1:n.935C>T
XM_005251923.3:c.626C>T	XP_005251980.1:p.Pro209Leu
XM_005251924.3:c.338C>T	XP_005251981.1:p.Pro113Leu
XM_011518531.1:c.626C>T	XP_011516833.1:p.Pro209Leu
XM_011518532.1:c.626C>T	XP_011516834.1:p.Pro209Leu
XM_011518533.1:c.626C>T	XP_011516835.1:p.Pro209Leu
XM_011518534.1:c.338C>T	XP_011516836.1:p.Pro113Leu
XM_011518535.1:c.338C>T	XP_011516837.1:p.Pro113Leu
XM_011518536.1:c.338C>T	XP_011516838.1:p.Pro113Leu
XM_011518537.1:c.338C>T	XP_011516839.1:p.Pro113Leu
XM_011518538.1:c.338C>T	XP_011516840.1:p.Pro113Leu
XM_011518539.1:c.305C>T	XP_011516841.1:p.Pro102Leu
XM_011518540.1:c.305C>T	XP_011516842.1:p.Pro102Leu
XM_011518541.1:c.305C>T	XP_011516843.1:p.Pro102Leu
XM_011518542.1:c.338C>T	XP_011516844.1:p.Pro113Leu
XM_011518543.1:c.-364C>T	XP_011516845.1:n.-364C>T
XR_242585.1:n.882C>T
XR_242586.1:n.882C>T
XR_428522.1:n.882C>T
NM_001318381.1:c.338C>T	NP_001305310.1:p.Pro113Leu
NM_001318382.1:c.-364C>T	NP_001305311.1:n.-364C>T
NM_014425.4:c.626C>T	NP_055240.2:p.Pro209Leu
NR_134606.1:n.882C>T
NM_014425.5:c.626C>T MANE Select	NP_055240.2:p.Pro209Leu
NM_001318381.2:c.338C>T	NP_001305310.1:p.Pro113Leu
NM_001318382.2:c.-364C>T	NP_001305311.1:n.-364C>T
NR_134606.2:n.824C>T