Canonical Allele Identifier: CA422808453

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421262-C-T
• COSMIC: COSM4902564 ; COSM4902565
• MyVariant Identifiers: chr1:g.197390392C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421262C>T , CM000663.2:g.197421262C>T	GRCh38
NC_000001.10:g.197390392C>T , CM000663.1:g.197390392C>T	GRCh37
NC_000001.9:g.195657015C>T	NCBI36
NG_008483.1:g.157985C>T
NG_008483.2:g.224801C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1434C>T MANE Select	ENSP00000356370.3:p.Ser478=
ENST00000638467.1:c.1434C>T	ENSP00000491102.1:p.Ser478=
ENST00000681519.1:c.315C>T	ENSP00000505267.1:p.Ser105=
ENST00000367397.1:c.-424C>T	ENSP00000356367.1:n.-424C>T
ENST00000367399.6:c.1098C>T	ENSP00000356369.2:p.Ser366=
ENST00000367400.7:c.1434C>T	ENSP00000356370.3:p.Ser478=
ENST00000476483.1:n.394C>T
ENST00000484075.5:c.1434C>T	ENSP00000433932.1:p.Ser478=
ENST00000535699.5:c.1227C>T	ENSP00000438786.1:p.Ser409=
ENST00000538660.5:c.1434C>T	ENSP00000438091.1:p.Ser478=
NM_001193640.1:c.1098C>T	NP_001180569.1:p.Ser366=
NM_001257965.1:c.1227C>T	NP_001244894.1:p.Ser409=
NM_001257966.1:c.1434C>T	NP_001244895.1:p.Ser478=
NM_201253.2:c.1434C>T	NP_957705.1:p.Ser478=
NR_047563.1:n.1643C>T
NR_047564.1:n.1643C>T
XM_011509365.1:c.1434C>T	XP_011507667.1:p.Ser478=
XM_011509366.1:c.1434C>T	XP_011507668.1:p.Ser478=
XM_011509367.1:c.1434C>T	XP_011507669.1:p.Ser478=
XM_011509368.1:c.852C>T	XP_011507670.1:p.Ser284=
XM_011509369.1:c.-124C>T	XP_011507671.1:n.-124C>T
XM_011509365.2:c.1434C>T	XP_011507667.1:p.Ser478=
XM_011509369.2:c.-124C>T	XP_011507671.1:n.-124C>T
XM_017000851.1:c.591C>T	XP_016856340.1:p.Ser197=
XM_017000852.1:c.1434C>T	XP_016856341.1:p.Ser478=
NM_201253.3:c.1434C>T MANE Select	NP_957705.1:p.Ser478=
NM_001193640.2:c.1098C>T	NP_001180569.1:p.Ser366=
NM_001257965.2:c.1227C>T	NP_001244894.1:p.Ser409=
NR_047563.2:n.1595C>T
NR_047564.2:n.1595C>T
NM_001257966.2:c.1434C>T	NP_001244895.1:p.Ser478=