Canonical Allele Identifier: CA422672541

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434782-C-A
• MyVariant Identifiers: chr1:g.197403912C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434782C>A , CM000663.2:g.197434782C>A	GRCh38
NC_000001.10:g.197403912C>A , CM000663.1:g.197403912C>A	GRCh37
NC_000001.9:g.195670535C>A	NCBI36
NG_008483.1:g.171505C>A
NG_008483.2:g.238321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2919C>A MANE Select	ENSP00000356370.3:p.Leu973=
ENST00000638467.1:c.2919C>A	ENSP00000491102.1:p.Leu973=
ENST00000681519.1:c.1800C>A	ENSP00000505267.1:p.Leu600=
ENST00000367397.1:c.1062C>A	ENSP00000356367.1:p.Leu354=
ENST00000367399.6:c.2583C>A	ENSP00000356369.2:p.Leu861=
ENST00000367400.7:c.2919C>A	ENSP00000356370.3:p.Leu973=
ENST00000484075.5:c.2919C>A	ENSP00000433932.1:p.Leu973=
ENST00000535699.5:c.2847C>A	ENSP00000438786.1:p.Leu949=
ENST00000538660.5:c.2129-818C>A	ENSP00000438091.1:n.2129-818C>A
NM_001193640.1:c.2583C>A	NP_001180569.1:p.Leu861=
NM_001257965.1:c.2847C>A	NP_001244894.1:p.Leu949=
NM_001257966.1:c.2129-818C>A	NP_001244895.1:n.2129-818C>A
NM_201253.2:c.2919C>A	NP_957705.1:p.Leu973=
NR_047563.1:n.2920C>A
NR_047564.1:n.3128C>A
XM_011509365.1:c.2919C>A	XP_011507667.1:p.Leu973=
XM_011509366.1:c.2919C>A	XP_011507668.1:p.Leu973=
XM_011509367.1:c.2919C>A	XP_011507669.1:p.Leu973=
XM_011509368.1:c.2337C>A	XP_011507670.1:p.Leu779=
XM_011509369.1:c.1362C>A	XP_011507671.1:p.Leu454=
XM_011509365.2:c.2919C>A	XP_011507667.1:p.Leu973=
XM_011509369.2:c.1362C>A	XP_011507671.1:p.Leu454=
XM_017000851.1:c.2076C>A	XP_016856340.1:p.Leu692=
XM_017000852.1:c.3054C>A	XP_016856341.1:p.Leu1018=
NM_201253.3:c.2919C>A MANE Select	NP_957705.1:p.Leu973=
NM_001193640.2:c.2583C>A	NP_001180569.1:p.Leu861=
NM_001257965.2:c.2847C>A	NP_001244894.1:p.Leu949=
NR_047563.2:n.2872C>A
NR_047564.2:n.3080C>A
NM_001257966.2:c.2129-818C>A	NP_001244895.1:n.2129-818C>A