Canonical Allele Identifier: CA344031101

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390438C>G (hg19) ; chr1:g.197421308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421308C>G , CM000663.2:g.197421308C>G	GRCh38
NC_000001.10:g.197390438C>G , CM000663.1:g.197390438C>G	GRCh37
NC_000001.9:g.195657061C>G	NCBI36
NG_008483.1:g.158031C>G
NG_008483.2:g.224847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1480C>G MANE Select	ENSP00000356370.3:p.Leu494Val
ENST00000638467.1:c.1480C>G	ENSP00000491102.1:p.Leu494Val
ENST00000681519.1:c.361C>G	ENSP00000505267.1:p.Leu121Val
ENST00000367397.1:c.-378C>G	ENSP00000356367.1:n.-378C>G
ENST00000367399.6:c.1144C>G	ENSP00000356369.2:p.Leu382Val
ENST00000367400.7:c.1480C>G	ENSP00000356370.3:p.Leu494Val
ENST00000476483.1:n.440C>G
ENST00000484075.5:c.1480C>G	ENSP00000433932.1:p.Leu494Val
ENST00000535699.5:c.1273C>G	ENSP00000438786.1:p.Leu425Val
ENST00000538660.5:c.1480C>G	ENSP00000438091.1:p.Leu494Val
NM_001193640.1:c.1144C>G	NP_001180569.1:p.Leu382Val
NM_001257965.1:c.1273C>G	NP_001244894.1:p.Leu425Val
NM_001257966.1:c.1480C>G	NP_001244895.1:p.Leu494Val
NM_201253.2:c.1480C>G	NP_957705.1:p.Leu494Val
NR_047563.1:n.1689C>G
NR_047564.1:n.1689C>G
XM_011509365.1:c.1480C>G	XP_011507667.1:p.Leu494Val
XM_011509366.1:c.1480C>G	XP_011507668.1:p.Leu494Val
XM_011509367.1:c.1480C>G	XP_011507669.1:p.Leu494Val
XM_011509368.1:c.898C>G	XP_011507670.1:p.Leu300Val
XM_011509369.1:c.-78C>G	XP_011507671.1:n.-78C>G
XM_011509365.2:c.1480C>G	XP_011507667.1:p.Leu494Val
XM_011509369.2:c.-78C>G	XP_011507671.1:n.-78C>G
XM_017000851.1:c.637C>G	XP_016856340.1:p.Leu213Val
XM_017000852.1:c.1480C>G	XP_016856341.1:p.Leu494Val
NM_201253.3:c.1480C>G MANE Select	NP_957705.1:p.Leu494Val
NM_001193640.2:c.1144C>G	NP_001180569.1:p.Leu382Val
NM_001257965.2:c.1273C>G	NP_001244894.1:p.Leu425Val
NR_047563.2:n.1641C>G
NR_047564.2:n.1641C>G
NM_001257966.2:c.1480C>G	NP_001244895.1:p.Leu494Val