Canonical Allele Identifier: CA658825035

Gene: TGIF1

Linked Data

• ClinVar Variation Id: 546555
• ClinVar RCV Id: RCV000658453
• dbSNP Id: rs1555651112
• MyVariant Identifiers: chr18:g.3457827dup (hg19) ; chr18:g.3457829dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.3457829dup , CM000680.2:g.3457829dup	GRCh38
NC_000018.9:g.3457827dup , CM000680.1:g.3457827dup	GRCh37
NC_000018.8:g.3447827dup	NCBI36
NG_007447.1:g.50756dup
NG_007447.2:g.50756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330513.10:c.648dup	ENSP00000327959.6:p.Pro217SerfsTer?
ENST00000343820.10:c.708dup MANE Select	ENSP00000339631.6:p.Pro237SerfsTer?
ENST00000330513.9:c.1095dup	ENSP00000327959.5:p.Pro366SerfsTer?
ENST00000343820.9:c.708dup	ENSP00000339631.5:p.Pro237SerfsTer?
ENST00000345133.9:c.648dup	ENSP00000343969.5:p.Pro217SerfsTer?
ENST00000400167.6:c.648dup	ENSP00000383031.2:p.Pro217SerfsTer?
ENST00000401449.5:c.648dup	ENSP00000385206.1:p.Pro217SerfsTer?
ENST00000405385.7:c.648dup	ENSP00000384970.2:p.Pro217SerfsTer?
ENST00000407501.6:c.708dup	ENSP00000384133.2:p.Pro237SerfsTer?
ENST00000472042.1:c.648dup	ENSP00000449501.1:p.Pro217SerfsTer?
ENST00000548489.6:c.648dup	ENSP00000447747.2:p.Pro217SerfsTer?
ENST00000549546.5:c.648dup	ENSP00000449580.1:p.Pro217SerfsTer?
ENST00000549780.5:c.648dup	ENSP00000448121.1:p.Pro217SerfsTer?
ENST00000551541.5:c.648dup	ENSP00000450025.1:p.Pro217SerfsTer?
ENST00000618001.4:c.750dup	ENSP00000483499.1:p.Pro251SerfsTer?
NM_001278682.1:c.717dup	NP_001265611.1:p.Pro240SerfsTer?
NM_001278684.1:c.708dup	NP_001265613.1:p.Pro237SerfsTer?
NM_001278686.1:c.648dup	NP_001265615.1:p.Pro217SerfsTer?
NM_003244.3:c.708dup	NP_003235.1:p.Pro237SerfsTer?
NM_170695.3:c.1095dup	NP_733796.2:p.Pro366SerfsTer?
NM_173207.2:c.750dup	NP_775299.1:p.Pro251SerfsTer?
NM_173208.2:c.708dup	NP_775300.1:p.Pro237SerfsTer?
NM_173209.2:c.648dup	NP_775301.1:p.Pro217SerfsTer?
NM_173210.2:c.648dup	NP_775302.1:p.Pro217SerfsTer?
NM_173211.1:c.648dup	NP_775303.1:p.Pro217SerfsTer?
NM_174886.2:c.648dup	NP_777480.1:p.Pro217SerfsTer?
XM_011525735.1:c.648dup	XP_011524037.1:p.Pro217SerfsTer?
XM_011525735.2:c.648dup	XP_011524037.1:p.Pro217SerfsTer?
XM_017025958.1:c.708dup	XP_016881447.1:p.Pro237SerfsTer?
XM_017025959.1:c.648dup	XP_016881448.1:p.Pro217SerfsTer?
NM_001278682.2:c.717dup	NP_001265611.1:p.Pro240SerfsTer?
NM_001278684.2:c.708dup	NP_001265613.1:p.Pro237SerfsTer?
NM_001278686.2:c.648dup	NP_001265615.1:p.Pro217SerfsTer?
NM_001374396.1:c.648dup	NP_001361325.1:p.Pro217SerfsTer?
NM_001374397.1:c.648dup	NP_001361326.1:p.Pro217SerfsTer?
NM_003244.4:c.708dup MANE Select	NP_003235.1:p.Pro237SerfsTer?
NM_170695.5:c.648dup	NP_733796.3:p.Pro217SerfsTer?
NM_173207.4:c.750dup	NP_775299.1:p.Pro251SerfsTer?
NM_173208.3:c.708dup	NP_775300.1:p.Pro237SerfsTer?
NM_173209.3:c.648dup	NP_775301.1:p.Pro217SerfsTer?
NM_173210.4:c.648dup	NP_775302.1:p.Pro217SerfsTer?
NM_173211.2:c.648dup	NP_775303.1:p.Pro217SerfsTer?
NM_174886.3:c.648dup	NP_777480.1:p.Pro217SerfsTer?
NM_001278686.3:c.648dup	NP_001265615.1:p.Pro217SerfsTer?