Canonical Allele Identifier: CA344043510

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434780-C-A
• MyVariant Identifiers: chr1:g.197403910C>A (hg19) ; chr1:g.197434780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434780C>A , CM000663.2:g.197434780C>A	GRCh38
NC_000001.10:g.197403910C>A , CM000663.1:g.197403910C>A	GRCh37
NC_000001.9:g.195670533C>A	NCBI36
NG_008483.1:g.171503C>A
NG_008483.2:g.238319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2917C>A MANE Select	ENSP00000356370.3:p.Leu973Ile
ENST00000638467.1:c.2917C>A	ENSP00000491102.1:p.Leu973Ile
ENST00000681519.1:c.1798C>A	ENSP00000505267.1:p.Leu600Ile
ENST00000367397.1:c.1060C>A	ENSP00000356367.1:p.Leu354Ile
ENST00000367399.6:c.2581C>A	ENSP00000356369.2:p.Leu861Ile
ENST00000367400.7:c.2917C>A	ENSP00000356370.3:p.Leu973Ile
ENST00000484075.5:c.2917C>A	ENSP00000433932.1:p.Leu973Ile
ENST00000535699.5:c.2845C>A	ENSP00000438786.1:p.Leu949Ile
ENST00000538660.5:c.2129-820C>A	ENSP00000438091.1:n.2129-820C>A
NM_001193640.1:c.2581C>A	NP_001180569.1:p.Leu861Ile
NM_001257965.1:c.2845C>A	NP_001244894.1:p.Leu949Ile
NM_001257966.1:c.2129-820C>A	NP_001244895.1:n.2129-820C>A
NM_201253.2:c.2917C>A	NP_957705.1:p.Leu973Ile
NR_047563.1:n.2918C>A
NR_047564.1:n.3126C>A
XM_011509365.1:c.2917C>A	XP_011507667.1:p.Leu973Ile
XM_011509366.1:c.2917C>A	XP_011507668.1:p.Leu973Ile
XM_011509367.1:c.2917C>A	XP_011507669.1:p.Leu973Ile
XM_011509368.1:c.2335C>A	XP_011507670.1:p.Leu779Ile
XM_011509369.1:c.1360C>A	XP_011507671.1:p.Leu454Ile
XM_011509365.2:c.2917C>A	XP_011507667.1:p.Leu973Ile
XM_011509369.2:c.1360C>A	XP_011507671.1:p.Leu454Ile
XM_017000851.1:c.2074C>A	XP_016856340.1:p.Leu692Ile
XM_017000852.1:c.3052C>A	XP_016856341.1:p.Leu1018Ile
NM_201253.3:c.2917C>A MANE Select	NP_957705.1:p.Leu973Ile
NM_001193640.2:c.2581C>A	NP_001180569.1:p.Leu861Ile
NM_001257965.2:c.2845C>A	NP_001244894.1:p.Leu949Ile
NR_047563.2:n.2870C>A
NR_047564.2:n.3078C>A
NM_001257966.2:c.2129-820C>A	NP_001244895.1:n.2129-820C>A