Canonical Allele Identifier: CA338171190

Gene: RERE

Linked Data

• ClinVar Variation Id: 1699384
• ClinVar RCV Id: RCV002273241
• dbSNP Id: rs977359991
• gnomAD v4: 1-8360371-G-C
• MyVariant Identifiers: chr1:g.8420431G>C (hg19) ; chr1:g.8360371G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360371G>C , CM000663.2:g.8360371G>C	GRCh38
NC_000001.10:g.8420431G>C , CM000663.1:g.8420431G>C	GRCh37
NC_000001.9:g.8343018G>C	NCBI36
NG_047035.1:g.462321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1474C>G	ENSP00000515651.1:p.Pro492Ala
ENST00000400908.7:c.3136C>G MANE Select	ENSP00000383700.2:p.Pro1046Ala
ENST00000337907.7:c.3136C>G	ENSP00000338629.3:p.Pro1046Ala
ENST00000377464.5:c.2332C>G	ENSP00000366684.1:p.Pro778Ala
ENST00000400907.6:c.1540+4375C>G	ENSP00000383699.2:n.1540+4375C>G
ENST00000400908.6:c.3136C>G	ENSP00000383700.2:p.Pro1046Ala
ENST00000476556.5:c.1474C>G	ENSP00000422246.1:p.Pro492Ala
ENST00000505225.1:c.307+1089C>G	ENSP00000423451.1:n.307+1089C>G
NM_001042681.1:c.3136C>G	NP_001036146.1:p.Pro1046Ala
NM_001042682.1:c.1474C>G	NP_001036147.1:p.Pro492Ala
NM_012102.3:c.3136C>G	NP_036234.3:p.Pro1046Ala
XM_005263464.1:c.3136C>G	XP_005263521.1:p.Pro1046Ala
XM_005263466.1:c.2332C>G	XP_005263523.1:p.Pro778Ala
XM_006710653.1:c.3136C>G	XP_006710716.1:p.Pro1046Ala
XM_011541510.1:c.3010C>G	XP_011539812.1:p.Pro1004Ala
XM_011541511.1:c.3136C>G	XP_011539813.1:p.Pro1046Ala
XM_005263464.2:c.3136C>G	XP_005263521.1:p.Pro1046Ala
XM_011541510.2:c.3010C>G	XP_011539812.1:p.Pro1004Ala
XM_011541511.2:c.3136C>G	XP_011539813.1:p.Pro1046Ala
XM_017001358.1:c.3136C>G	XP_016856847.1:p.Pro1046Ala
XM_017001359.1:c.3136C>G	XP_016856848.1:p.Pro1046Ala
NM_001042681.2:c.3136C>G MANE Select	NP_001036146.1:p.Pro1046Ala
NM_001042682.2:c.1474C>G	NP_001036147.1:p.Pro492Ala
NM_012102.4:c.3136C>G	NP_036234.3:p.Pro1046Ala