Canonical Allele Identifier: CA344030810

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390373C>G (hg19) ; chr1:g.197421243C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421243C>G , CM000663.2:g.197421243C>G	GRCh38
NC_000001.10:g.197390373C>G , CM000663.1:g.197390373C>G	GRCh37
NC_000001.9:g.195656996C>G	NCBI36
NG_008483.1:g.157966C>G
NG_008483.2:g.224782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1415C>G MANE Select	ENSP00000356370.3:p.Pro472Arg
ENST00000638467.1:c.1415C>G	ENSP00000491102.1:p.Pro472Arg
ENST00000681519.1:c.296C>G	ENSP00000505267.1:p.Pro99Arg
ENST00000367397.1:c.-443C>G	ENSP00000356367.1:n.-443C>G
ENST00000367399.6:c.1079C>G	ENSP00000356369.2:p.Pro360Arg
ENST00000367400.7:c.1415C>G	ENSP00000356370.3:p.Pro472Arg
ENST00000476483.1:n.375C>G
ENST00000484075.5:c.1415C>G	ENSP00000433932.1:p.Pro472Arg
ENST00000535699.5:c.1208C>G	ENSP00000438786.1:p.Pro403Arg
ENST00000538660.5:c.1415C>G	ENSP00000438091.1:p.Pro472Arg
NM_001193640.1:c.1079C>G	NP_001180569.1:p.Pro360Arg
NM_001257965.1:c.1208C>G	NP_001244894.1:p.Pro403Arg
NM_001257966.1:c.1415C>G	NP_001244895.1:p.Pro472Arg
NM_201253.2:c.1415C>G	NP_957705.1:p.Pro472Arg
NR_047563.1:n.1624C>G
NR_047564.1:n.1624C>G
XM_011509365.1:c.1415C>G	XP_011507667.1:p.Pro472Arg
XM_011509366.1:c.1415C>G	XP_011507668.1:p.Pro472Arg
XM_011509367.1:c.1415C>G	XP_011507669.1:p.Pro472Arg
XM_011509368.1:c.833C>G	XP_011507670.1:p.Pro278Arg
XM_011509369.1:c.-143C>G	XP_011507671.1:n.-143C>G
XM_011509365.2:c.1415C>G	XP_011507667.1:p.Pro472Arg
XM_011509369.2:c.-143C>G	XP_011507671.1:n.-143C>G
XM_017000851.1:c.572C>G	XP_016856340.1:p.Pro191Arg
XM_017000852.1:c.1415C>G	XP_016856341.1:p.Pro472Arg
NM_201253.3:c.1415C>G MANE Select	NP_957705.1:p.Pro472Arg
NM_001193640.2:c.1079C>G	NP_001180569.1:p.Pro360Arg
NM_001257965.2:c.1208C>G	NP_001244894.1:p.Pro403Arg
NR_047563.2:n.1576C>G
NR_047564.2:n.1576C>G
NM_001257966.2:c.1415C>G	NP_001244895.1:p.Pro472Arg