Canonical Allele Identifier: CA338170657

Gene: RERE

Linked Data

• gnomAD v4: 1-8359981-T-A
• MyVariant Identifiers: chr1:g.8420041T>A (hg19) ; chr1:g.8359981T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359981T>A , CM000663.2:g.8359981T>A	GRCh38
NC_000001.10:g.8420041T>A , CM000663.1:g.8420041T>A	GRCh37
NC_000001.9:g.8342628T>A	NCBI36
NG_047035.1:g.462711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1739A>T	ENSP00000515651.1:p.Tyr580Phe
ENST00000400908.7:c.3401A>T MANE Select	ENSP00000383700.2:p.Tyr1134Phe
ENST00000337907.7:c.3401A>T	ENSP00000338629.3:p.Tyr1134Phe
ENST00000377464.5:c.2597A>T	ENSP00000366684.1:p.Tyr866Phe
ENST00000400907.6:c.1541-4382A>T	ENSP00000383699.2:n.1541-4382A>T
ENST00000400908.6:c.3401A>T	ENSP00000383700.2:p.Tyr1134Phe
ENST00000476556.5:c.1739A>T	ENSP00000422246.1:p.Tyr580Phe
ENST00000505225.1:c.307+1479A>T	ENSP00000423451.1:n.307+1479A>T
NM_001042681.1:c.3401A>T	NP_001036146.1:p.Tyr1134Phe
NM_001042682.1:c.1739A>T	NP_001036147.1:p.Tyr580Phe
NM_012102.3:c.3401A>T	NP_036234.3:p.Tyr1134Phe
XM_005263464.1:c.3401A>T	XP_005263521.1:p.Tyr1134Phe
XM_005263466.1:c.2597A>T	XP_005263523.1:p.Tyr866Phe
XM_006710653.1:c.3401A>T	XP_006710716.1:p.Tyr1134Phe
XM_011541510.1:c.3275A>T	XP_011539812.1:p.Tyr1092Phe
XM_011541511.1:c.3395+131A>T	XP_011539813.1:n.3395+131A>T
XM_005263464.2:c.3401A>T	XP_005263521.1:p.Tyr1134Phe
XM_011541510.2:c.3275A>T	XP_011539812.1:p.Tyr1092Phe
XM_011541511.2:c.3395+131A>T	XP_011539813.1:n.3395+131A>T
XM_017001358.1:c.3401A>T	XP_016856847.1:p.Tyr1134Phe
XM_017001359.1:c.3401A>T	XP_016856848.1:p.Tyr1134Phe
NM_001042681.2:c.3401A>T MANE Select	NP_001036146.1:p.Tyr1134Phe
NM_001042682.2:c.1739A>T	NP_001036147.1:p.Tyr580Phe
NM_012102.4:c.3401A>T	NP_036234.3:p.Tyr1134Phe