Canonical Allele Identifier: CA570731

Gene: RERE

Linked Data

• dbSNP Id: rs747332411
• ExAC: 1:8415517 C / T
• gnomAD v2: 1-8415517-C-T
• gnomAD v4: 1-8355457-C-T
• MyVariant Identifiers: chr1:g.8415517C>T (hg19) ; chr1:g.8355457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355457C>T , CM000663.2:g.8355457C>T	GRCh38
NC_000001.10:g.8415517C>T , CM000663.1:g.8415517C>T	GRCh37
NC_000001.9:g.8338104C>T	NCBI36
NG_047035.1:g.467235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2967G>A	ENSP00000515651.1:p.Met989Ile
ENST00000400908.7:c.4629G>A MANE Select	ENSP00000383700.2:p.Met1543Ile
ENST00000337907.7:c.4629G>A	ENSP00000338629.3:p.Met1543Ile
ENST00000377464.5:c.3825G>A	ENSP00000366684.1:p.Met1275Ile
ENST00000400907.6:c.1683G>A	ENSP00000383699.2:p.Met561Ile
ENST00000400908.6:c.4629G>A	ENSP00000383700.2:p.Met1543Ile
ENST00000476556.5:c.2967G>A	ENSP00000422246.1:p.Met989Ile
NM_001042681.1:c.4629G>A	NP_001036146.1:p.Met1543Ile
NM_001042682.1:c.2967G>A	NP_001036147.1:p.Met989Ile
NM_012102.3:c.4629G>A	NP_036234.3:p.Met1543Ile
XM_005263464.1:c.4629G>A	XP_005263521.1:p.Met1543Ile
XM_005263466.1:c.3825G>A	XP_005263523.1:p.Met1275Ile
XM_006710653.1:c.4629G>A	XP_006710716.1:p.Met1543Ile
XM_011541510.1:c.4503G>A	XP_011539812.1:p.Met1501Ile
XM_005263464.2:c.4629G>A	XP_005263521.1:p.Met1543Ile
XM_011541510.2:c.4503G>A	XP_011539812.1:p.Met1501Ile
XM_017001358.1:c.4629G>A	XP_016856847.1:p.Met1543Ile
XM_017001359.1:c.4629G>A	XP_016856848.1:p.Met1543Ile
NM_001042681.2:c.4629G>A MANE Select	NP_001036146.1:p.Met1543Ile
NM_001042682.2:c.2967G>A	NP_001036147.1:p.Met989Ile
NM_012102.4:c.4629G>A	NP_036234.3:p.Met1543Ile