Canonical Allele Identifier: CA679359177

Gene: OVOL1

Linked Data

• dbSNP Id: rs1239022731
• gnomAD v3: 11-65791711-G-T
• gnomAD v4: 11-65791711-G-T
• MyVariant Identifiers: chr11:g.65559182G>T (hg19) ; chr11:g.65791711G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791711G>T , CM000673.2:g.65791711G>T	GRCh38
NC_000011.9:g.65559182G>T , CM000673.1:g.65559182G>T	GRCh37
NC_000011.8:g.65315758G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335987.8:c.101-2320G>T MANE Select	ENSP00000337862.3:n.101-2320G>T
ENST00000335987.7:c.101-2320G>T	ENSP00000337862.3:n.101-2320G>T
ENST00000531907.1:n.361-607G>T
NM_004561.3:c.101-2320G>T	NP_004552.2:n.101-2320G>T
XM_005274018.3:c.-87+2018G>T	XP_005274075.1:n.-87+2018G>T
XM_011545067.1:c.-86-2320G>T	XP_011543369.1:n.-86-2320G>T
XM_011545068.1:c.-87+848G>T	XP_011543370.1:n.-87+848G>T
XM_011545067.2:c.-86-2320G>T	XP_011543369.1:n.-86-2320G>T
XM_011545068.3:c.-87+848G>T	XP_011543370.1:n.-87+848G>T
XM_017017837.1:c.-86-2320G>T	XP_016873326.1:n.-86-2320G>T
NM_004561.4:c.101-2320G>T MANE Select	NP_004552.2:n.101-2320G>T