Canonical Allele Identifier: CA338168033

Gene: RERE

Linked Data

• MyVariant Identifiers: chr1:g.8415503A>C (hg19) ; chr1:g.8355443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355443A>C , CM000663.2:g.8355443A>C	GRCh38
NC_000001.10:g.8415503A>C , CM000663.1:g.8415503A>C	GRCh37
NC_000001.9:g.8338090A>C	NCBI36
NG_047035.1:g.467249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2981T>G	ENSP00000515651.1:p.Leu994Arg
ENST00000400908.7:c.4643T>G MANE Select	ENSP00000383700.2:p.Leu1548Arg
ENST00000337907.7:c.4643T>G	ENSP00000338629.3:p.Leu1548Arg
ENST00000377464.5:c.3839T>G	ENSP00000366684.1:p.Leu1280Arg
ENST00000400907.6:c.1697T>G	ENSP00000383699.2:p.Leu566Arg
ENST00000400908.6:c.4643T>G	ENSP00000383700.2:p.Leu1548Arg
ENST00000476556.5:c.2981T>G	ENSP00000422246.1:p.Leu994Arg
NM_001042681.1:c.4643T>G	NP_001036146.1:p.Leu1548Arg
NM_001042682.1:c.2981T>G	NP_001036147.1:p.Leu994Arg
NM_012102.3:c.4643T>G	NP_036234.3:p.Leu1548Arg
XM_005263464.1:c.4643T>G	XP_005263521.1:p.Leu1548Arg
XM_005263466.1:c.3839T>G	XP_005263523.1:p.Leu1280Arg
XM_006710653.1:c.4643T>G	XP_006710716.1:p.Leu1548Arg
XM_011541510.1:c.4517T>G	XP_011539812.1:p.Leu1506Arg
XM_005263464.2:c.4643T>G	XP_005263521.1:p.Leu1548Arg
XM_011541510.2:c.4517T>G	XP_011539812.1:p.Leu1506Arg
XM_017001358.1:c.4643T>G	XP_016856847.1:p.Leu1548Arg
XM_017001359.1:c.4643T>G	XP_016856848.1:p.Leu1548Arg
NM_001042681.2:c.4643T>G MANE Select	NP_001036146.1:p.Leu1548Arg
NM_001042682.2:c.2981T>G	NP_001036147.1:p.Leu994Arg
NM_012102.4:c.4643T>G	NP_036234.3:p.Leu1548Arg