Canonical Allele Identifier: CA422672255

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2930444
• ClinVar RCV Id: RCV003789754
• dbSNP Id: rs62636273
• MyVariant Identifiers: chr1:g.197398590T>C (hg19) ; chr1:g.197429460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429460T>C , CM000663.2:g.197429460T>C	GRCh38
NC_000001.10:g.197398590T>C , CM000663.1:g.197398590T>C	GRCh37
NC_000001.9:g.195665213T>C	NCBI36
NG_008483.1:g.166183T>C
NG_008483.2:g.232999T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2688T>C MANE Select	ENSP00000356370.3:p.Cys896=
ENST00000638467.1:c.2688T>C	ENSP00000491102.1:p.Cys896=
ENST00000681519.1:c.1569T>C	ENSP00000505267.1:p.Cys523=
ENST00000367397.1:c.831T>C	ENSP00000356367.1:p.Cys277=
ENST00000367399.6:c.2352T>C	ENSP00000356369.2:p.Cys784=
ENST00000367400.7:c.2688T>C	ENSP00000356370.3:p.Cys896=
ENST00000484075.5:c.2688T>C	ENSP00000433932.1:p.Cys896=
ENST00000535699.5:c.2616T>C	ENSP00000438786.1:p.Cys872=
ENST00000538660.5:c.2129-6140T>C	ENSP00000438091.1:n.2129-6140T>C
NM_001193640.1:c.2352T>C	NP_001180569.1:p.Cys784=
NM_001257965.1:c.2616T>C	NP_001244894.1:p.Cys872=
NM_001257966.1:c.2129-6140T>C	NP_001244895.1:n.2129-6140T>C
NM_201253.2:c.2688T>C	NP_957705.1:p.Cys896=
NR_047563.1:n.2689T>C
NR_047564.1:n.2897T>C
XM_011509365.1:c.2688T>C	XP_011507667.1:p.Cys896=
XM_011509366.1:c.2688T>C	XP_011507668.1:p.Cys896=
XM_011509367.1:c.2688T>C	XP_011507669.1:p.Cys896=
XM_011509368.1:c.2106T>C	XP_011507670.1:p.Cys702=
XM_011509369.1:c.1131T>C	XP_011507671.1:p.Cys377=
XM_011509365.2:c.2688T>C	XP_011507667.1:p.Cys896=
XM_011509369.2:c.1131T>C	XP_011507671.1:p.Cys377=
XM_017000851.1:c.1845T>C	XP_016856340.1:p.Cys615=
XM_017000852.1:c.2823T>C	XP_016856341.1:p.Cys941=
NM_201253.3:c.2688T>C MANE Select	NP_957705.1:p.Cys896=
NM_001193640.2:c.2352T>C	NP_001180569.1:p.Cys784=
NM_001257965.2:c.2616T>C	NP_001244894.1:p.Cys872=
NR_047563.2:n.2641T>C
NR_047564.2:n.2849T>C
NM_001257966.2:c.2129-6140T>C	NP_001244895.1:n.2129-6140T>C