Canonical Allele Identifier: CA344037172

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427729-C-A
• MyVariant Identifiers: chr1:g.197396859C>A (hg19) ; chr1:g.197427729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427729C>A , CM000663.2:g.197427729C>A	GRCh38
NC_000001.10:g.197396859C>A , CM000663.1:g.197396859C>A	GRCh37
NC_000001.9:g.195663482C>A	NCBI36
NG_008483.1:g.164452C>A
NG_008483.2:g.231268C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2404C>A MANE Select	ENSP00000356370.3:p.Pro802Thr
ENST00000638467.1:c.2404C>A	ENSP00000491102.1:p.Pro802Thr
ENST00000681519.1:c.1285C>A	ENSP00000505267.1:p.Pro429Thr
ENST00000367397.1:c.547C>A	ENSP00000356367.1:p.Pro183Thr
ENST00000367399.6:c.2068C>A	ENSP00000356369.2:p.Pro690Thr
ENST00000367400.7:c.2404C>A	ENSP00000356370.3:p.Pro802Thr
ENST00000480086.2:n.305C>A
ENST00000484075.5:c.2404C>A	ENSP00000433932.1:p.Pro802Thr
ENST00000535699.5:c.2197C>A	ENSP00000438786.1:p.Pro733Thr
ENST00000538660.5:c.2128+5773C>A	ENSP00000438091.1:n.2128+5773C>A
NM_001193640.1:c.2068C>A	NP_001180569.1:p.Pro690Thr
NM_001257965.1:c.2197C>A	NP_001244894.1:p.Pro733Thr
NM_001257966.1:c.2128+5773C>A	NP_001244895.1:n.2128+5773C>A
NM_201253.2:c.2404C>A	NP_957705.1:p.Pro802Thr
NR_047563.1:n.2405C>A
NR_047564.1:n.2613C>A
XM_011509365.1:c.2404C>A	XP_011507667.1:p.Pro802Thr
XM_011509366.1:c.2404C>A	XP_011507668.1:p.Pro802Thr
XM_011509367.1:c.2404C>A	XP_011507669.1:p.Pro802Thr
XM_011509368.1:c.1822C>A	XP_011507670.1:p.Pro608Thr
XM_011509369.1:c.847C>A	XP_011507671.1:p.Pro283Thr
XM_011509365.2:c.2404C>A	XP_011507667.1:p.Pro802Thr
XM_011509369.2:c.847C>A	XP_011507671.1:p.Pro283Thr
XM_017000851.1:c.1561C>A	XP_016856340.1:p.Pro521Thr
XM_017000852.1:c.2404C>A	XP_016856341.1:p.Pro802Thr
NM_201253.3:c.2404C>A MANE Select	NP_957705.1:p.Pro802Thr
NM_001193640.2:c.2068C>A	NP_001180569.1:p.Pro690Thr
NM_001257965.2:c.2197C>A	NP_001244894.1:p.Pro733Thr
NR_047563.2:n.2357C>A
NR_047564.2:n.2565C>A
NM_001257966.2:c.2128+5773C>A	NP_001244895.1:n.2128+5773C>A