Canonical Allele Identifier: CA401724116
Gene: TGIF1 HGNC NCBI

Linked Data

dbSNP Id: rs1218392695
gnomAD v2: 18-3457841-C-T
gnomAD v4: 18-3457843-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.3457843C>T , CM000680.2:g.3457843C>T GRCh38
NC_000018.9:g.3457841C>T , CM000680.1:g.3457841C>T GRCh37
NC_000018.8:g.3447841C>T NCBI36
NG_007447.1:g.50770C>T
NG_007447.2:g.50770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330513.10:c.662C>T ENSP00000327959.6:p.Pro221Leu
ENST00000343820.10:c.722C>T MANE Select ENSP00000339631.6:p.Pro241Leu
ENST00000330513.9:c.1109C>T ENSP00000327959.5:p.Pro370Leu
ENST00000343820.9:c.722C>T ENSP00000339631.5:p.Pro241Leu
ENST00000345133.9:c.662C>T ENSP00000343969.5:p.Pro221Leu
ENST00000400167.6:c.662C>T ENSP00000383031.2:p.Pro221Leu
ENST00000401449.5:c.662C>T ENSP00000385206.1:p.Pro221Leu
ENST00000405385.7:c.662C>T ENSP00000384970.2:p.Pro221Leu
ENST00000407501.6:c.722C>T ENSP00000384133.2:p.Pro241Leu
ENST00000472042.1:c.662C>T ENSP00000449501.1:p.Pro221Leu
ENST00000548489.6:c.662C>T ENSP00000447747.2:p.Pro221Leu
ENST00000549546.5:c.662C>T ENSP00000449580.1:p.Pro221Leu
ENST00000551541.5:c.662C>T ENSP00000450025.1:p.Pro221Leu
ENST00000618001.4:c.764C>T ENSP00000483499.1:p.Pro255Leu
NM_001278682.1:c.731C>T NP_001265611.1:p.Pro244Leu
NM_001278684.1:c.722C>T NP_001265613.1:p.Pro241Leu
NM_001278686.1:c.662C>T NP_001265615.1:p.Pro221Leu
NM_003244.3:c.722C>T NP_003235.1:p.Pro241Leu
NM_170695.3:c.1109C>T NP_733796.2:p.Pro370Leu
NM_173207.2:c.764C>T NP_775299.1:p.Pro255Leu
NM_173208.2:c.722C>T NP_775300.1:p.Pro241Leu
NM_173209.2:c.662C>T NP_775301.1:p.Pro221Leu
NM_173210.2:c.662C>T NP_775302.1:p.Pro221Leu
NM_173211.1:c.662C>T NP_775303.1:p.Pro221Leu
NM_174886.2:c.662C>T NP_777480.1:p.Pro221Leu
XM_011525735.1:c.662C>T XP_011524037.1:p.Pro221Leu
XM_011525735.2:c.662C>T XP_011524037.1:p.Pro221Leu
XM_017025958.1:c.722C>T XP_016881447.1:p.Pro241Leu
XM_017025959.1:c.662C>T XP_016881448.1:p.Pro221Leu
NM_001278682.2:c.731C>T NP_001265611.1:p.Pro244Leu
NM_001278684.2:c.722C>T NP_001265613.1:p.Pro241Leu
NM_001278686.2:c.662C>T NP_001265615.1:p.Pro221Leu
NM_001374396.1:c.662C>T NP_001361325.1:p.Pro221Leu
NM_001374397.1:c.662C>T NP_001361326.1:p.Pro221Leu
NM_003244.4:c.722C>T MANE Select NP_003235.1:p.Pro241Leu
NM_170695.5:c.662C>T NP_733796.3:p.Pro221Leu
NM_173207.4:c.764C>T NP_775299.1:p.Pro255Leu
NM_173208.3:c.722C>T NP_775300.1:p.Pro241Leu
NM_173209.3:c.662C>T NP_775301.1:p.Pro221Leu
NM_173210.4:c.662C>T NP_775302.1:p.Pro221Leu
NM_173211.2:c.662C>T NP_775303.1:p.Pro221Leu
NM_174886.3:c.662C>T NP_777480.1:p.Pro221Leu
NM_001278686.3:c.662C>T NP_001265615.1:p.Pro221Leu