Canonical Allele Identifier: CA344037179

Gene: CRB1

Linked Data

• ClinVar Variation Id: 578182
• ClinVar RCV Id: RCV000701115
• dbSNP Id: rs1558132026
• gnomAD v4: 1-197427730-C-T
• MyVariant Identifiers: chr1:g.197396860C>T (hg19) ; chr1:g.197427730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427730C>T , CM000663.2:g.197427730C>T	GRCh38
NC_000001.10:g.197396860C>T , CM000663.1:g.197396860C>T	GRCh37
NC_000001.9:g.195663483C>T	NCBI36
NG_008483.1:g.164453C>T
NG_008483.2:g.231269C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2405C>T MANE Select	ENSP00000356370.3:p.Pro802Leu
ENST00000638467.1:c.2405C>T	ENSP00000491102.1:p.Pro802Leu
ENST00000681519.1:c.1286C>T	ENSP00000505267.1:p.Pro429Leu
ENST00000367397.1:c.548C>T	ENSP00000356367.1:p.Pro183Leu
ENST00000367399.6:c.2069C>T	ENSP00000356369.2:p.Pro690Leu
ENST00000367400.7:c.2405C>T	ENSP00000356370.3:p.Pro802Leu
ENST00000480086.2:n.306C>T
ENST00000484075.5:c.2405C>T	ENSP00000433932.1:p.Pro802Leu
ENST00000535699.5:c.2198C>T	ENSP00000438786.1:p.Pro733Leu
ENST00000538660.5:c.2128+5774C>T	ENSP00000438091.1:n.2128+5774C>T
NM_001193640.1:c.2069C>T	NP_001180569.1:p.Pro690Leu
NM_001257965.1:c.2198C>T	NP_001244894.1:p.Pro733Leu
NM_001257966.1:c.2128+5774C>T	NP_001244895.1:n.2128+5774C>T
NM_201253.2:c.2405C>T	NP_957705.1:p.Pro802Leu
NR_047563.1:n.2406C>T
NR_047564.1:n.2614C>T
XM_011509365.1:c.2405C>T	XP_011507667.1:p.Pro802Leu
XM_011509366.1:c.2405C>T	XP_011507668.1:p.Pro802Leu
XM_011509367.1:c.2405C>T	XP_011507669.1:p.Pro802Leu
XM_011509368.1:c.1823C>T	XP_011507670.1:p.Pro608Leu
XM_011509369.1:c.848C>T	XP_011507671.1:p.Pro283Leu
XM_011509365.2:c.2405C>T	XP_011507667.1:p.Pro802Leu
XM_011509369.2:c.848C>T	XP_011507671.1:p.Pro283Leu
XM_017000851.1:c.1562C>T	XP_016856340.1:p.Pro521Leu
XM_017000852.1:c.2405C>T	XP_016856341.1:p.Pro802Leu
NM_201253.3:c.2405C>T MANE Select	NP_957705.1:p.Pro802Leu
NM_001193640.2:c.2069C>T	NP_001180569.1:p.Pro690Leu
NM_001257965.2:c.2198C>T	NP_001244894.1:p.Pro733Leu
NR_047563.2:n.2358C>T
NR_047564.2:n.2566C>T
NM_001257966.2:c.2128+5774C>T	NP_001244895.1:n.2128+5774C>T