Canonical Allele Identifier: CA344035378

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477665-T-G
• MyVariant Identifiers: chr1:g.197446795T>G (hg19) ; chr1:g.197477665T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477665T>G , CM000663.2:g.197477665T>G	GRCh38
NC_000001.10:g.197446795T>G , CM000663.1:g.197446795T>G	GRCh37
NC_000001.9:g.195713418T>G	NCBI36
NG_008483.1:g.214388T>G
NG_008483.2:g.281204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4007T>G MANE Select	ENSP00000356370.3:p.Leu1336Trp
ENST00000367399.6:c.3671T>G	ENSP00000356369.2:p.Leu1224Trp
ENST00000367400.7:c.4007T>G	ENSP00000356370.3:p.Leu1336Trp
ENST00000448952.1:c.241T>G	ENSP00000395407.1:n.241T>G
ENST00000484075.5:c.*118T>G	ENSP00000433932.1:n.*118T>G
ENST00000535699.5:c.3935T>G	ENSP00000438786.1:p.Leu1312Trp
ENST00000538660.5:c.2399T>G	ENSP00000438091.1:p.Leu800Trp
NM_001193640.1:c.3671T>G	NP_001180569.1:p.Leu1224Trp
NM_001257965.1:c.3935T>G	NP_001244894.1:p.Leu1312Trp
NM_001257966.1:c.2399T>G	NP_001244895.1:p.Leu800Trp
NM_201253.2:c.4007T>G	NP_957705.1:p.Leu1336Trp
NR_047563.1:n.4008T>G
NR_047564.1:n.4458T>G
XM_011509366.1:c.*112T>G	XP_011507668.1:n.*112T>G
XM_011509367.1:c.3880T>G	XP_011507669.1:p.Trp1294Gly
XM_011509368.1:c.3425T>G	XP_011507670.1:p.Leu1142Trp
XM_011509369.1:c.2450T>G	XP_011507671.1:p.Leu817Trp
XM_011509369.2:c.2450T>G	XP_011507671.1:p.Leu817Trp
XM_017000851.1:c.3164T>G	XP_016856340.1:p.Leu1055Trp
XM_017000852.1:c.4142T>G	XP_016856341.1:p.Leu1381Trp
NM_201253.3:c.4007T>G MANE Select	NP_957705.1:p.Leu1336Trp
NM_001193640.2:c.3671T>G	NP_001180569.1:p.Leu1224Trp
NM_001257965.2:c.3935T>G	NP_001244894.1:p.Leu1312Trp
NR_047563.2:n.3960T>G
NR_047564.2:n.4410T>G
NM_001257966.2:c.2399T>G	NP_001244895.1:p.Leu800Trp