Canonical Allele Identifier: CA571235

Gene: RERE

Linked Data

• dbSNP Id: rs779071255
• ExAC: 1:8420382 G / A
• gnomAD v2: 1-8420382-G-A
• gnomAD v4: 1-8360322-G-A
• MyVariant Identifiers: chr1:g.8420382G>A (hg19) ; chr1:g.8360322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360322G>A , CM000663.2:g.8360322G>A	GRCh38
NC_000001.10:g.8420382G>A , CM000663.1:g.8420382G>A	GRCh37
NC_000001.9:g.8342969G>A	NCBI36
NG_047035.1:g.462370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1523C>T	ENSP00000515651.1:p.Pro508Leu
ENST00000400908.7:c.3185C>T MANE Select	ENSP00000383700.2:p.Pro1062Leu
ENST00000337907.7:c.3185C>T	ENSP00000338629.3:p.Pro1062Leu
ENST00000377464.5:c.2381C>T	ENSP00000366684.1:p.Pro794Leu
ENST00000400907.6:c.1540+4424C>T	ENSP00000383699.2:n.1540+4424C>T
ENST00000400908.6:c.3185C>T	ENSP00000383700.2:p.Pro1062Leu
ENST00000476556.5:c.1523C>T	ENSP00000422246.1:p.Pro508Leu
ENST00000505225.1:c.307+1138C>T	ENSP00000423451.1:n.307+1138C>T
NM_001042681.1:c.3185C>T	NP_001036146.1:p.Pro1062Leu
NM_001042682.1:c.1523C>T	NP_001036147.1:p.Pro508Leu
NM_012102.3:c.3185C>T	NP_036234.3:p.Pro1062Leu
XM_005263464.1:c.3185C>T	XP_005263521.1:p.Pro1062Leu
XM_005263466.1:c.2381C>T	XP_005263523.1:p.Pro794Leu
XM_006710653.1:c.3185C>T	XP_006710716.1:p.Pro1062Leu
XM_011541510.1:c.3059C>T	XP_011539812.1:p.Pro1020Leu
XM_011541511.1:c.3185C>T	XP_011539813.1:p.Pro1062Leu
XM_005263464.2:c.3185C>T	XP_005263521.1:p.Pro1062Leu
XM_011541510.2:c.3059C>T	XP_011539812.1:p.Pro1020Leu
XM_011541511.2:c.3185C>T	XP_011539813.1:p.Pro1062Leu
XM_017001358.1:c.3185C>T	XP_016856847.1:p.Pro1062Leu
XM_017001359.1:c.3185C>T	XP_016856848.1:p.Pro1062Leu
NM_001042681.2:c.3185C>T MANE Select	NP_001036146.1:p.Pro1062Leu
NM_001042682.2:c.1523C>T	NP_001036147.1:p.Pro508Leu
NM_012102.4:c.3185C>T	NP_036234.3:p.Pro1062Leu