Canonical Allele Identifier: CA344084608

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356978C>G , CM000663.2:g.197356978C>G	GRCh38
NC_000001.10:g.197326108C>G , CM000663.1:g.197326108C>G	GRCh37
NC_000001.9:g.195592731C>G	NCBI36
NG_008483.1:g.93701C>G
NG_008483.2:g.160517C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.1136C>G MANE Select	NP_957705.1:p.Ser379Ter
ENST00000367400.8:c.1136C>G MANE Select	ENSP00000356370.3:p.Ser379Ter
NM_001193640.1:c.800C>G	NP_001180569.1:p.Ser267Ter
NM_001193640.2:c.800C>G	NP_001180569.1:p.Ser267Ter
NM_001257965.1:c.929C>G	NP_001244894.1:p.Ser310Ter
NM_001257965.2:c.929C>G	NP_001244894.1:p.Ser310Ter
NM_001257966.1:c.1136C>G	NP_001244895.1:p.Ser379Ter
NM_001257966.2:c.1136C>G	NP_001244895.1:p.Ser379Ter
NM_201253.2:c.1136C>G	NP_957705.1:p.Ser379Ter
NR_047563.1:n.1345C>G
NR_047563.2:n.1297C>G
NR_047564.1:n.1345C>G
NR_047564.2:n.1297C>G
ENST00000367399.6:c.800C>G	ENSP00000356369.2:p.Ser267Ter
ENST00000367400.7:c.1136C>G	ENSP00000356370.3:p.Ser379Ter
ENST00000475659.1:n.1273C>G
ENST00000484075.5:c.1136C>G	ENSP00000433932.1:p.Ser379Ter
ENST00000535699.5:c.929C>G	ENSP00000438786.1:p.Ser310Ter
ENST00000538660.5:c.1136C>G	ENSP00000438091.1:p.Ser379Ter
ENST00000638467.1:c.1136C>G	ENSP00000491102.1:p.Ser379Ter
XM_011509365.1:c.1136C>G	XP_011507667.1:p.Ser379Ter
XM_011509365.2:c.1136C>G	XP_011507667.1:p.Ser379Ter
XM_011509366.1:c.1136C>G	XP_011507668.1:p.Ser379Ter
XM_011509367.1:c.1136C>G	XP_011507669.1:p.Ser379Ter
XM_011509368.1:c.554C>G	XP_011507670.1:p.Ser185Ter
XM_017000851.1:c.293C>G	XP_016856340.1:p.Ser98Ter
XM_017000852.1:c.1136C>G	XP_016856341.1:p.Ser379Ter