Canonical Allele Identifier: CA388871953

Gene: RPGRIP1

Linked Data

• MyVariant Identifiers: chr14:g.21796742A>C (hg19) ; chr14:g.21328583A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21328583A>C , CM000676.2:g.21328583A>C	GRCh38
NC_000014.8:g.21796742A>C , CM000676.1:g.21796742A>C	GRCh37
NC_000014.7:g.20866582A>C	NCBI36
NG_008933.1:g.45607A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.3055A>C MANE Select	ENSP00000382895.2:p.Met1019Leu
ENST00000382933.8:c.1033A>C	ENSP00000372391.4:p.Met345Leu
ENST00000400017.6:c.3055A>C	ENSP00000382895.2:p.Met1019Leu
ENST00000553927.1:n.1987A>C
ENST00000555322.5:c.1482A>C
ENST00000555489.5:c.1248A>C	ENSP00000451044.1:n.1248A>C
ENST00000555587.5:c.1480A>C	ENSP00000451262.1:p.Met494Leu
ENST00000556336.5:c.2026A>C	ENSP00000450445.1:p.Met676Leu
ENST00000557771.5:c.2941A>C	ENSP00000451219.1:p.Met981Leu
NM_020366.3:c.3055A>C	NP_065099.3:p.Met1019Leu
XM_005267879.2:c.1981A>C	XP_005267936.1:p.Met661Leu
XM_005267880.2:c.1948A>C	XP_005267937.1:p.Met650Leu
XM_005267881.2:c.1429A>C	XP_005267938.1:p.Met477Leu
XM_011536978.1:c.1981A>C	XP_011535280.1:p.Met661Leu
XM_011536979.1:c.1765A>C	XP_011535281.1:p.Met589Leu
XM_011536980.1:c.1636A>C	XP_011535282.1:p.Met546Leu
XM_011536981.1:c.1486A>C	XP_011535283.1:p.Met496Leu
XM_011536982.1:c.1141A>C	XP_011535284.1:p.Met381Leu
XM_011536983.1:c.3022A>C	XP_011535285.1:p.Met1008Leu
XM_005267881.3:c.1429A>C	XP_005267938.1:p.Met477Leu
XM_017021473.1:c.1486A>C	XP_016876962.1:p.Met496Leu
XM_024449663.1:c.1981A>C	XP_024305431.1:p.Met661Leu
XM_024449664.1:c.1486A>C	XP_024305432.1:p.Met496Leu
XM_024449665.1:c.1141A>C	XP_024305433.1:p.Met381Leu
XM_024449666.1:c.1141A>C	XP_024305434.1:p.Met381Leu
NM_001377523.1:c.1033A>C	NP_001364452.1:p.Met345Leu
NM_001377948.1:c.1981A>C	NP_001364877.1:p.Met661Leu
NM_001377949.1:c.1141A>C	NP_001364878.1:p.Met381Leu
NM_001377950.1:c.1033A>C	NP_001364879.1:p.Met345Leu
NM_001377951.1:c.535A>C	NP_001364880.1:p.Met179Leu
NM_020366.4:c.3055A>C MANE Select	NP_065099.3:p.Met1019Leu