Canonical Allele Identifier: CA422809221

Gene: CRB1

Linked Data

• COSMIC: COSM5502374 ; COSM5502375
• MyVariant Identifiers: chr1:g.197404203C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435073C>T , CM000663.2:g.197435073C>T	GRCh38
NC_000001.10:g.197404203C>T , CM000663.1:g.197404203C>T	GRCh37
NC_000001.9:g.195670826C>T	NCBI36
NG_008483.1:g.171796C>T
NG_008483.2:g.238612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3210C>T MANE Select	ENSP00000356370.3:p.Ser1070=
ENST00000638467.1:c.3210C>T	ENSP00000491102.1:p.Ser1070=
ENST00000681519.1:c.2091C>T	ENSP00000505267.1:p.Ser697=
ENST00000367397.1:c.1353C>T	ENSP00000356367.1:p.Ser451=
ENST00000367399.6:c.2874C>T	ENSP00000356369.2:p.Ser958=
ENST00000367400.7:c.3210C>T	ENSP00000356370.3:p.Ser1070=
ENST00000484075.5:c.3210C>T	ENSP00000433932.1:p.Ser1070=
ENST00000535699.5:c.3138C>T	ENSP00000438786.1:p.Ser1046=
ENST00000538660.5:c.2129-527C>T	ENSP00000438091.1:n.2129-527C>T
NM_001193640.1:c.2874C>T	NP_001180569.1:p.Ser958=
NM_001257965.1:c.3138C>T	NP_001244894.1:p.Ser1046=
NM_001257966.1:c.2129-527C>T	NP_001244895.1:n.2129-527C>T
NM_201253.2:c.3210C>T	NP_957705.1:p.Ser1070=
NR_047563.1:n.3211C>T
NR_047564.1:n.3419C>T
XM_011509365.1:c.3210C>T	XP_011507667.1:p.Ser1070=
XM_011509366.1:c.3210C>T	XP_011507668.1:p.Ser1070=
XM_011509367.1:c.3210C>T	XP_011507669.1:p.Ser1070=
XM_011509368.1:c.2628C>T	XP_011507670.1:p.Ser876=
XM_011509369.1:c.1653C>T	XP_011507671.1:p.Ser551=
XM_011509365.2:c.3210C>T	XP_011507667.1:p.Ser1070=
XM_011509369.2:c.1653C>T	XP_011507671.1:p.Ser551=
XM_017000851.1:c.2367C>T	XP_016856340.1:p.Ser789=
XM_017000852.1:c.3345C>T	XP_016856341.1:p.Ser1115=
NM_201253.3:c.3210C>T MANE Select	NP_957705.1:p.Ser1070=
NM_001193640.2:c.2874C>T	NP_001180569.1:p.Ser958=
NM_001257965.2:c.3138C>T	NP_001244894.1:p.Ser1046=
NR_047563.2:n.3163C>T
NR_047564.2:n.3371C>T
NM_001257966.2:c.2129-527C>T	NP_001244895.1:n.2129-527C>T