Canonical Allele Identifier: CA422677505

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446850C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477720C>G , CM000663.2:g.197477720C>G	GRCh38
NC_000001.10:g.197446850C>G , CM000663.1:g.197446850C>G	GRCh37
NC_000001.9:g.195713473C>G	NCBI36
NG_008483.1:g.214443C>G
NG_008483.2:g.281259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4062C>G MANE Select	ENSP00000356370.3:p.Ala1354=
ENST00000367399.6:c.3726C>G	ENSP00000356369.2:p.Ala1242=
ENST00000367400.7:c.4062C>G	ENSP00000356370.3:p.Ala1354=
ENST00000448952.1:c.296C>G	ENSP00000395407.1:n.296C>G
ENST00000484075.5:c.*173C>G	ENSP00000433932.1:n.*173C>G
ENST00000535699.5:c.3990C>G	ENSP00000438786.1:p.Ala1330=
ENST00000538660.5:c.2454C>G	ENSP00000438091.1:p.Ala818=
NM_001193640.1:c.3726C>G	NP_001180569.1:p.Ala1242=
NM_001257965.1:c.3990C>G	NP_001244894.1:p.Ala1330=
NM_001257966.1:c.2454C>G	NP_001244895.1:p.Ala818=
NM_201253.2:c.4062C>G	NP_957705.1:p.Ala1354=
NR_047563.1:n.4063C>G
NR_047564.1:n.4513C>G
XM_011509366.1:c.*167C>G	XP_011507668.1:n.*167C>G
XM_011509367.1:c.*41C>G	XP_011507669.1:n.*41C>G
XM_011509368.1:c.3480C>G	XP_011507670.1:p.Ala1160=
XM_011509369.1:c.2505C>G	XP_011507671.1:p.Ala835=
XM_011509369.2:c.2505C>G	XP_011507671.1:p.Ala835=
XM_017000851.1:c.3219C>G	XP_016856340.1:p.Ala1073=
XM_017000852.1:c.4197C>G	XP_016856341.1:p.Ala1399=
NM_201253.3:c.4062C>G MANE Select	NP_957705.1:p.Ala1354=
NM_001193640.2:c.3726C>G	NP_001180569.1:p.Ala1242=
NM_001257965.2:c.3990C>G	NP_001244894.1:p.Ala1330=
NR_047563.2:n.4015C>G
NR_047564.2:n.4465C>G
NM_001257966.2:c.2454C>G	NP_001244895.1:p.Ala818=