Canonical Allele Identifier: CA368523584
Community Standard Title: NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
Gene: GIGYF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100681721A>C , CM000669.2:g.100681721A>C GRCh38
NC_000007.13:g.100279344A>C , CM000669.1:g.100279344A>C GRCh37
NC_000007.12:g.100117280A>C NCBI36
NG_053106.1:g.17562T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001375765.1:c.3106T>G MANE Select NP_001362694.1:p.Ter1036Gly
ENST00000678049.1:c.3106T>G MANE Select ENSP00000503354.1:p.Ter1036Gly
NM_001375759.1:c.3198T>G NP_001362688.1:p.Thr1066=
NM_001375760.1:c.3198T>G NP_001362689.1:p.Thr1066=
NM_001375761.1:c.3198T>G NP_001362690.1:p.Thr1066=
NM_001375762.1:c.3198T>G NP_001362691.1:p.Thr1066=
NM_001375763.1:c.3198T>G NP_001362692.1:p.Thr1066=
NM_001375764.1:c.3198T>G NP_001362693.1:p.Thr1066=
NM_001375766.1:c.3106T>G NP_001362695.1:p.Ter1036Gly
NM_001375767.1:c.3123T>G NP_001362696.1:p.Thr1041=
NM_001375768.1:c.3120T>G NP_001362697.1:p.Thr1040=
NM_022574.4:c.3106T>G NP_072096.2:p.Ter1036Gly
NM_022574.5:c.3106T>G NP_072096.2:p.Ter1036Gly
NR_164719.1:n.3853T>G
ENST00000275732.5:c.3106T>G ENSP00000275732.4:p.Ter1036Gly
ENST00000646601.1:c.3106T>G ENSP00000494292.1:p.Ter1036Gly
XM_005250532.1:c.3106T>G XP_005250589.1:p.Ter1036Gly
XM_005250532.2:c.3106T>G XP_005250589.1:p.Ter1036Gly
XM_011516472.1:c.3123T>G XP_011514774.1:p.Thr1041=
XM_011516472.2:c.3123T>G XP_011514774.1:p.Thr1041=
XM_011516473.1:c.3123T>G XP_011514775.1:p.Thr1041=
XM_011516474.1:c.3123T>G XP_011514776.1:p.Thr1041=
XM_011516475.1:c.3123T>G XP_011514777.1:p.Thr1041=
XM_011516476.1:c.3123T>G XP_011514778.1:p.Thr1041=
XM_011516477.1:c.3120T>G XP_011514779.1:p.Thr1040=
XM_011516477.2:c.3120T>G XP_011514779.1:p.Thr1040=
XM_011516478.1:c.2817T>G XP_011514780.1:p.Thr939=
XM_017012526.2:c.3198T>G XP_016868015.1:p.Thr1066=
XM_017012527.2:c.3198T>G XP_016868016.1:p.Thr1066=
XM_017012528.1:c.3198T>G XP_016868017.1:p.Thr1066=
XM_017012529.1:c.3198T>G XP_016868018.1:p.Thr1066=
XM_017012530.2:c.3198T>G XP_016868019.1:p.Thr1066=
XM_017012531.1:c.2892T>G XP_016868020.1:p.Thr964=
XM_024446870.1:c.3198T>G XP_024302638.1:p.Thr1066=
XM_024446871.1:c.3198T>G XP_024302639.1:p.Thr1066=