Canonical Allele Identifier: CA344032730

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390796T>G (hg19) ; chr1:g.197421666T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421666T>G , CM000663.2:g.197421666T>G	GRCh38
NC_000001.10:g.197390796T>G , CM000663.1:g.197390796T>G	GRCh37
NC_000001.9:g.195657419T>G	NCBI36
NG_008483.1:g.158389T>G
NG_008483.2:g.225205T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1838T>G MANE Select	ENSP00000356370.3:p.Leu613Trp
ENST00000638467.1:c.1838T>G	ENSP00000491102.1:p.Leu613Trp
ENST00000681519.1:c.719T>G	ENSP00000505267.1:p.Leu240Trp
ENST00000367397.1:c.-20T>G	ENSP00000356367.1:n.-20T>G
ENST00000367399.6:c.1502T>G	ENSP00000356369.2:p.Leu501Trp
ENST00000367400.7:c.1838T>G	ENSP00000356370.3:p.Leu613Trp
ENST00000484075.5:c.1838T>G	ENSP00000433932.1:p.Leu613Trp
ENST00000535699.5:c.1631T>G	ENSP00000438786.1:p.Leu544Trp
ENST00000538660.5:c.1838T>G	ENSP00000438091.1:p.Leu613Trp
NM_001193640.1:c.1502T>G	NP_001180569.1:p.Leu501Trp
NM_001257965.1:c.1631T>G	NP_001244894.1:p.Leu544Trp
NM_001257966.1:c.1838T>G	NP_001244895.1:p.Leu613Trp
NM_201253.2:c.1838T>G	NP_957705.1:p.Leu613Trp
NR_047563.1:n.1923-84T>G
NR_047564.1:n.2047T>G
XM_011509365.1:c.1838T>G	XP_011507667.1:p.Leu613Trp
XM_011509366.1:c.1838T>G	XP_011507668.1:p.Leu613Trp
XM_011509367.1:c.1838T>G	XP_011507669.1:p.Leu613Trp
XM_011509368.1:c.1256T>G	XP_011507670.1:p.Leu419Trp
XM_011509369.1:c.281T>G	XP_011507671.1:p.Leu94Trp
XM_011509365.2:c.1838T>G	XP_011507667.1:p.Leu613Trp
XM_011509369.2:c.281T>G	XP_011507671.1:p.Leu94Trp
XM_017000851.1:c.995T>G	XP_016856340.1:p.Leu332Trp
XM_017000852.1:c.1838T>G	XP_016856341.1:p.Leu613Trp
NM_201253.3:c.1838T>G MANE Select	NP_957705.1:p.Leu613Trp
NM_001193640.2:c.1502T>G	NP_001180569.1:p.Leu501Trp
NM_001257965.2:c.1631T>G	NP_001244894.1:p.Leu544Trp
NR_047563.2:n.1875-84T>G
NR_047564.2:n.1999T>G
NM_001257966.2:c.1838T>G	NP_001244895.1:p.Leu613Trp