Canonical Allele Identifier: CA338168368

Gene: RERE

Linked Data

• ClinVar Variation Id: 3029935
• ClinVar RCV Id: RCV003899185
• dbSNP Id: rs1570011038
• gnomAD v4: 1-8355597-T-G
• MyVariant Identifiers: chr1:g.8415657T>G (hg19) ; chr1:g.8355597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355597T>G , CM000663.2:g.8355597T>G	GRCh38
NC_000001.10:g.8415657T>G , CM000663.1:g.8415657T>G	GRCh37
NC_000001.9:g.8338244T>G	NCBI36
NG_047035.1:g.467095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2827A>C	ENSP00000515651.1:p.Thr943Pro
ENST00000400908.7:c.4489A>C MANE Select	ENSP00000383700.2:p.Thr1497Pro
ENST00000337907.7:c.4489A>C	ENSP00000338629.3:p.Thr1497Pro
ENST00000377464.5:c.3685A>C	ENSP00000366684.1:p.Thr1229Pro
ENST00000400907.6:c.1543A>C	ENSP00000383699.2:p.Thr515Pro
ENST00000400908.6:c.4489A>C	ENSP00000383700.2:p.Thr1497Pro
ENST00000476556.5:c.2827A>C	ENSP00000422246.1:p.Thr943Pro
ENST00000505225.1:c.457A>C	ENSP00000423451.1:p.Thr153Pro
NM_001042681.1:c.4489A>C	NP_001036146.1:p.Thr1497Pro
NM_001042682.1:c.2827A>C	NP_001036147.1:p.Thr943Pro
NM_012102.3:c.4489A>C	NP_036234.3:p.Thr1497Pro
XM_005263464.1:c.4489A>C	XP_005263521.1:p.Thr1497Pro
XM_005263466.1:c.3685A>C	XP_005263523.1:p.Thr1229Pro
XM_006710653.1:c.4489A>C	XP_006710716.1:p.Thr1497Pro
XM_011541510.1:c.4363A>C	XP_011539812.1:p.Thr1455Pro
XM_005263464.2:c.4489A>C	XP_005263521.1:p.Thr1497Pro
XM_011541510.2:c.4363A>C	XP_011539812.1:p.Thr1455Pro
XM_017001358.1:c.4489A>C	XP_016856847.1:p.Thr1497Pro
XM_017001359.1:c.4489A>C	XP_016856848.1:p.Thr1497Pro
NM_001042681.2:c.4489A>C MANE Select	NP_001036146.1:p.Thr1497Pro
NM_001042682.2:c.2827A>C	NP_001036147.1:p.Thr943Pro
NM_012102.4:c.4489A>C	NP_036234.3:p.Thr1497Pro