Canonical Allele Identifier: CA344030212

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390244C>A (hg19) ; chr1:g.197421114C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421114C>A , CM000663.2:g.197421114C>A	GRCh38
NC_000001.10:g.197390244C>A , CM000663.1:g.197390244C>A	GRCh37
NC_000001.9:g.195656867C>A	NCBI36
NG_008483.1:g.157837C>A
NG_008483.2:g.224653C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1286C>A MANE Select	ENSP00000356370.3:p.Ser429Tyr
ENST00000638467.1:c.1286C>A	ENSP00000491102.1:p.Ser429Tyr
ENST00000681519.1:c.167C>A	ENSP00000505267.1:p.Ser56Tyr
ENST00000367397.1:c.-572C>A	ENSP00000356367.1:n.-572C>A
ENST00000367399.6:c.950C>A	ENSP00000356369.2:p.Ser317Tyr
ENST00000367400.7:c.1286C>A	ENSP00000356370.3:p.Ser429Tyr
ENST00000476483.1:n.246C>A
ENST00000484075.5:c.1286C>A	ENSP00000433932.1:p.Ser429Tyr
ENST00000535699.5:c.1079C>A	ENSP00000438786.1:p.Ser360Tyr
ENST00000538660.5:c.1286C>A	ENSP00000438091.1:p.Ser429Tyr
NM_001193640.1:c.950C>A	NP_001180569.1:p.Ser317Tyr
NM_001257965.1:c.1079C>A	NP_001244894.1:p.Ser360Tyr
NM_001257966.1:c.1286C>A	NP_001244895.1:p.Ser429Tyr
NM_201253.2:c.1286C>A	NP_957705.1:p.Ser429Tyr
NR_047563.1:n.1495C>A
NR_047564.1:n.1495C>A
XM_011509365.1:c.1286C>A	XP_011507667.1:p.Ser429Tyr
XM_011509366.1:c.1286C>A	XP_011507668.1:p.Ser429Tyr
XM_011509367.1:c.1286C>A	XP_011507669.1:p.Ser429Tyr
XM_011509368.1:c.704C>A	XP_011507670.1:p.Ser235Tyr
XM_011509369.1:c.-272C>A	XP_011507671.1:n.-272C>A
XM_011509365.2:c.1286C>A	XP_011507667.1:p.Ser429Tyr
XM_011509369.2:c.-272C>A	XP_011507671.1:n.-272C>A
XM_017000851.1:c.443C>A	XP_016856340.1:p.Ser148Tyr
XM_017000852.1:c.1286C>A	XP_016856341.1:p.Ser429Tyr
NM_201253.3:c.1286C>A MANE Select	NP_957705.1:p.Ser429Tyr
NM_001193640.2:c.950C>A	NP_001180569.1:p.Ser317Tyr
NM_001257965.2:c.1079C>A	NP_001244894.1:p.Ser360Tyr
NR_047563.2:n.1447C>A
NR_047564.2:n.1447C>A
NM_001257966.2:c.1286C>A	NP_001244895.1:p.Ser429Tyr