Canonical Allele Identifier: CA344032818

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390840C>G (hg19) ; chr1:g.197421710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421710C>G , CM000663.2:g.197421710C>G	GRCh38
NC_000001.10:g.197390840C>G , CM000663.1:g.197390840C>G	GRCh37
NC_000001.9:g.195657463C>G	NCBI36
NG_008483.1:g.158433C>G
NG_008483.2:g.225249C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1882C>G MANE Select	ENSP00000356370.3:p.Leu628Val
ENST00000638467.1:c.1882C>G	ENSP00000491102.1:p.Leu628Val
ENST00000681519.1:c.763C>G	ENSP00000505267.1:p.Leu255Val
ENST00000367397.1:c.25C>G	ENSP00000356367.1:p.Leu9Val
ENST00000367399.6:c.1546C>G	ENSP00000356369.2:p.Leu516Val
ENST00000367400.7:c.1882C>G	ENSP00000356370.3:p.Leu628Val
ENST00000484075.5:c.1882C>G	ENSP00000433932.1:p.Leu628Val
ENST00000535699.5:c.1675C>G	ENSP00000438786.1:p.Leu559Val
ENST00000538660.5:c.1882C>G	ENSP00000438091.1:p.Leu628Val
NM_001193640.1:c.1546C>G	NP_001180569.1:p.Leu516Val
NM_001257965.1:c.1675C>G	NP_001244894.1:p.Leu559Val
NM_001257966.1:c.1882C>G	NP_001244895.1:p.Leu628Val
NM_201253.2:c.1882C>G	NP_957705.1:p.Leu628Val
NR_047563.1:n.1923-40C>G
NR_047564.1:n.2091C>G
XM_011509365.1:c.1882C>G	XP_011507667.1:p.Leu628Val
XM_011509366.1:c.1882C>G	XP_011507668.1:p.Leu628Val
XM_011509367.1:c.1882C>G	XP_011507669.1:p.Leu628Val
XM_011509368.1:c.1300C>G	XP_011507670.1:p.Leu434Val
XM_011509369.1:c.325C>G	XP_011507671.1:p.Leu109Val
XM_011509365.2:c.1882C>G	XP_011507667.1:p.Leu628Val
XM_011509369.2:c.325C>G	XP_011507671.1:p.Leu109Val
XM_017000851.1:c.1039C>G	XP_016856340.1:p.Leu347Val
XM_017000852.1:c.1882C>G	XP_016856341.1:p.Leu628Val
NM_201253.3:c.1882C>G MANE Select	NP_957705.1:p.Leu628Val
NM_001193640.2:c.1546C>G	NP_001180569.1:p.Leu516Val
NM_001257965.2:c.1675C>G	NP_001244894.1:p.Leu559Val
NR_047563.2:n.1875-40C>G
NR_047564.2:n.2043C>G
NM_001257966.2:c.1882C>G	NP_001244895.1:p.Leu628Val