Canonical Allele Identifier: CA4388325
Gene: GIGYF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100683845C>T , CM000669.2:g.100683845C>T GRCh38
NC_000007.13:g.100281468C>T , CM000669.1:g.100281468C>T GRCh37
NC_000007.12:g.100119404C>T NCBI36
NG_053106.1:g.15438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646601.1:c.1942G>A ENSP00000494292.1:p.Val648Ile
ENST00000678049.1:c.1942G>A MANE Select ENSP00000503354.1:p.Val648Ile
ENST00000275732.5:c.1942G>A ENSP00000275732.4:p.Val648Ile
NM_022574.4:c.1942G>A NP_072096.2:p.Val648Ile
XM_005250532.1:c.1942G>A XP_005250589.1:p.Val648Ile
XM_011516472.1:c.1942G>A XP_011514774.1:p.Val648Ile
XM_011516473.1:c.1942G>A XP_011514775.1:p.Val648Ile
XM_011516474.1:c.1942G>A XP_011514776.1:p.Val648Ile
XM_011516475.1:c.1942G>A XP_011514777.1:p.Val648Ile
XM_011516476.1:c.1942G>A XP_011514778.1:p.Val648Ile
XM_011516477.1:c.1942G>A XP_011514779.1:p.Val648Ile
XM_011516478.1:c.1636G>A XP_011514780.1:p.Val546Ile
NM_022574.5:c.1942G>A NP_072096.2:p.Val648Ile
XM_005250532.2:c.1942G>A XP_005250589.1:p.Val648Ile
XM_011516472.2:c.1942G>A XP_011514774.1:p.Val648Ile
XM_011516477.2:c.1942G>A XP_011514779.1:p.Val648Ile
XM_017012526.2:c.1942G>A XP_016868015.1:p.Val648Ile
XM_017012527.2:c.1942G>A XP_016868016.1:p.Val648Ile
XM_017012528.1:c.1942G>A XP_016868017.1:p.Val648Ile
XM_017012529.1:c.1942G>A XP_016868018.1:p.Val648Ile
XM_017012530.2:c.1942G>A XP_016868019.1:p.Val648Ile
XM_017012531.1:c.1636G>A XP_016868020.1:p.Val546Ile
XM_024446870.1:c.1942G>A XP_024302638.1:p.Val648Ile
XM_024446871.1:c.1942G>A XP_024302639.1:p.Val648Ile
NM_001375759.1:c.1942G>A NP_001362688.1:p.Val648Ile
NM_001375760.1:c.1942G>A NP_001362689.1:p.Val648Ile
NM_001375761.1:c.1942G>A NP_001362690.1:p.Val648Ile
NM_001375762.1:c.1942G>A NP_001362691.1:p.Val648Ile
NM_001375763.1:c.1942G>A NP_001362692.1:p.Val648Ile
NM_001375764.1:c.1942G>A NP_001362693.1:p.Val648Ile
NM_001375765.1:c.1942G>A MANE Select NP_001362694.1:p.Val648Ile
NM_001375766.1:c.1942G>A NP_001362695.1:p.Val648Ile
NM_001375767.1:c.1942G>A NP_001362696.1:p.Val648Ile
NM_001375768.1:c.1942G>A NP_001362697.1:p.Val648Ile
NR_164719.1:n.2597G>A