Canonical Allele Identifier: CA344035750

Gene: CRB1

Linked Data

• dbSNP Id: rs1206810310
• gnomAD v2: 1-197446925-C-A
• MyVariant Identifiers: chr1:g.197446925C>A (hg19) ; chr1:g.197477795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477795C>A , CM000663.2:g.197477795C>A	GRCh38
NC_000001.10:g.197446925C>A , CM000663.1:g.197446925C>A	GRCh37
NC_000001.9:g.195713548C>A	NCBI36
NG_008483.1:g.214518C>A
NG_008483.2:g.281334C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4137C>A MANE Select	ENSP00000356370.3:p.Tyr1379Ter
ENST00000367399.6:c.3801C>A	ENSP00000356369.2:p.Tyr1267Ter
ENST00000367400.7:c.4137C>A	ENSP00000356370.3:p.Tyr1379Ter
ENST00000448952.1:c.371C>A	ENSP00000395407.1:n.371C>A
ENST00000484075.5:c.*248C>A	ENSP00000433932.1:n.*248C>A
ENST00000535699.5:c.4065C>A	ENSP00000438786.1:p.Tyr1355Ter
ENST00000538660.5:c.2529C>A	ENSP00000438091.1:p.Tyr843Ter
NM_001193640.1:c.3801C>A	NP_001180569.1:p.Tyr1267Ter
NM_001257965.1:c.4065C>A	NP_001244894.1:p.Tyr1355Ter
NM_001257966.1:c.2529C>A	NP_001244895.1:p.Tyr843Ter
NM_201253.2:c.4137C>A	NP_957705.1:p.Tyr1379Ter
NR_047563.1:n.4138C>A
NR_047564.1:n.4588C>A
XM_011509366.1:c.*242C>A	XP_011507668.1:n.*242C>A
XM_011509367.1:c.*116C>A	XP_011507669.1:n.*116C>A
XM_011509368.1:c.3555C>A	XP_011507670.1:p.Tyr1185Ter
XM_011509369.1:c.2580C>A	XP_011507671.1:p.Tyr860Ter
XM_011509369.2:c.2580C>A	XP_011507671.1:p.Tyr860Ter
XM_017000851.1:c.3294C>A	XP_016856340.1:p.Tyr1098Ter
XM_017000852.1:c.4272C>A	XP_016856341.1:p.Tyr1424Ter
NM_201253.3:c.4137C>A MANE Select	NP_957705.1:p.Tyr1379Ter
NM_001193640.2:c.3801C>A	NP_001180569.1:p.Tyr1267Ter
NM_001257965.2:c.4065C>A	NP_001244894.1:p.Tyr1355Ter
NR_047563.2:n.4090C>A
NR_047564.2:n.4540C>A
NM_001257966.2:c.2529C>A	NP_001244895.1:p.Tyr843Ter