Canonical Allele Identifier: CA344041408

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429614T>G , CM000663.2:g.197429614T>G	GRCh38
NC_000001.10:g.197398744T>G , CM000663.1:g.197398744T>G	GRCh37
NC_000001.9:g.195665367T>G	NCBI36
NG_008483.1:g.166337T>G
NG_008483.2:g.233153T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2842T>G MANE Select	NP_957705.1:p.Cys948Gly
ENST00000367400.8:c.2842T>G MANE Select	ENSP00000356370.3:p.Cys948Gly
NM_001193640.1:c.2506T>G	NP_001180569.1:p.Cys836Gly
NM_001193640.2:c.2506T>G	NP_001180569.1:p.Cys836Gly
NM_001257965.1:c.2770T>G	NP_001244894.1:p.Cys924Gly
NM_001257965.2:c.2770T>G	NP_001244894.1:p.Cys924Gly
NM_001257966.1:c.2129-5986T>G	NP_001244895.1:n.2129-5986T>G
NM_001257966.2:c.2129-5986T>G	NP_001244895.1:n.2129-5986T>G
NM_201253.2:c.2842T>G	NP_957705.1:p.Cys948Gly
NR_047563.1:n.2843T>G
NR_047563.2:n.2795T>G
NR_047564.1:n.3051T>G
NR_047564.2:n.3003T>G
ENST00000367397.1:c.985T>G	ENSP00000356367.1:p.Cys329Gly
ENST00000367399.6:c.2506T>G	ENSP00000356369.2:p.Cys836Gly
ENST00000367400.7:c.2842T>G	ENSP00000356370.3:p.Cys948Gly
ENST00000484075.5:c.2842T>G	ENSP00000433932.1:p.Cys948Gly
ENST00000535699.5:c.2770T>G	ENSP00000438786.1:p.Cys924Gly
ENST00000538660.5:c.2129-5986T>G	ENSP00000438091.1:n.2129-5986T>G
ENST00000638467.1:c.2842T>G	ENSP00000491102.1:p.Cys948Gly
ENST00000681519.1:c.1723T>G	ENSP00000505267.1:p.Cys575Gly
XM_011509365.1:c.2842T>G	XP_011507667.1:p.Cys948Gly
XM_011509365.2:c.2842T>G	XP_011507667.1:p.Cys948Gly
XM_011509366.1:c.2842T>G	XP_011507668.1:p.Cys948Gly
XM_011509367.1:c.2842T>G	XP_011507669.1:p.Cys948Gly
XM_011509368.1:c.2260T>G	XP_011507670.1:p.Cys754Gly
XM_011509369.1:c.1285T>G	XP_011507671.1:p.Cys429Gly
XM_011509369.2:c.1285T>G	XP_011507671.1:p.Cys429Gly
XM_017000851.1:c.1999T>G	XP_016856340.1:p.Cys667Gly
XM_017000852.1:c.2977T>G	XP_016856341.1:p.Cys993Gly