Canonical Allele Identifier: CA365815579

Gene: REPS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.138947835C>G , CM000668.2:g.138947835C>G	GRCh38
NC_000006.11:g.139268972C>G , CM000668.1:g.139268972C>G	GRCh37
NC_000006.10:g.139310665C>G	NCBI36
NG_034016.1:g.45427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450536.7:c.232G>C MANE Select	ENSP00000392065.2:p.Val78Leu
ENST00000258062.9:c.232G>C	ENSP00000258062.5:p.Val78Leu
ENST00000367663.8:c.232G>C	ENSP00000356635.4:p.Val78Leu
ENST00000409812.6:c.232G>C	ENSP00000386699.2:p.Val78Leu
ENST00000415951.6:c.232G>C	ENSP00000397941.2:p.Val78Leu
ENST00000445570.5:c.232G>C	ENSP00000401729.1:p.Val78Leu
ENST00000450536.6:c.232G>C	ENSP00000392065.2:p.Val78Leu
ENST00000483468.5:c.232G>C	ENSP00000435392.1:p.Val78Leu
ENST00000529597.5:c.190G>C	ENSP00000434251.1:p.Val64Leu
ENST00000626459.2:c.232G>C	ENSP00000487438.1:p.Val78Leu
NM_001128617.2:c.232G>C	NP_001122089.1:p.Val78Leu
NM_001286611.1:c.232G>C	NP_001273540.1:p.Val78Leu
NM_001286612.1:c.232G>C	NP_001273541.1:p.Val78Leu
NM_031922.4:c.232G>C	NP_114128.3:p.Val78Leu
XM_005267177.2:c.232G>C	XP_005267234.1:p.Val78Leu
XM_005267178.3:c.232G>C	XP_005267235.1:p.Val78Leu
XM_005267179.2:c.232G>C	XP_005267236.1:p.Val78Leu
XM_006715587.2:c.232G>C	XP_006715650.1:p.Val78Leu
XM_011536202.1:c.97G>C	XP_011534504.1:p.Val33Leu
XM_011536203.1:c.232G>C	XP_011534505.1:p.Val78Leu
XR_942610.1:n.832G>C
XM_005267177.4:c.232G>C	XP_005267234.1:p.Val78Leu
XM_005267178.5:c.232G>C	XP_005267235.1:p.Val78Leu
XM_005267179.4:c.232G>C	XP_005267236.1:p.Val78Leu
XM_011536202.2:c.97G>C	XP_011534504.1:p.Val33Leu
XM_017011387.2:c.232G>C	XP_016866876.1:p.Val78Leu
XM_017011388.2:c.97G>C	XP_016866877.1:p.Val33Leu
XM_017011389.1:c.97G>C	XP_016866878.1:p.Val33Leu
NM_001128617.3:c.232G>C	NP_001122089.1:p.Val78Leu
NM_001286611.2:c.232G>C MANE Select	NP_001273540.1:p.Val78Leu
NM_001286612.2:c.232G>C	NP_001273541.1:p.Val78Leu
NM_031922.5:c.232G>C	NP_114128.3:p.Val78Leu