Canonical Allele Identifier: CA344035786

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477800C>T , CM000663.2:g.197477800C>T	GRCh38
NC_000001.10:g.197446930C>T , CM000663.1:g.197446930C>T	GRCh37
NC_000001.9:g.195713553C>T	NCBI36
NG_008483.1:g.214523C>T
NG_008483.2:g.281339C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4142C>T MANE Select	NP_957705.1:p.Pro1381Leu
ENST00000367400.8:c.4142C>T MANE Select	ENSP00000356370.3:p.Pro1381Leu
NM_001193640.1:c.3806C>T	NP_001180569.1:p.Pro1269Leu
NM_001193640.2:c.3806C>T	NP_001180569.1:p.Pro1269Leu
NM_001257965.1:c.4070C>T	NP_001244894.1:p.Pro1357Leu
NM_001257965.2:c.4070C>T	NP_001244894.1:p.Pro1357Leu
NM_001257966.1:c.2534C>T	NP_001244895.1:p.Pro845Leu
NM_001257966.2:c.2534C>T	NP_001244895.1:p.Pro845Leu
NM_201253.2:c.4142C>T	NP_957705.1:p.Pro1381Leu
NR_047563.1:n.4143C>T
NR_047563.2:n.4095C>T
NR_047564.1:n.4593C>T
NR_047564.2:n.4545C>T
ENST00000367399.6:c.3806C>T	ENSP00000356369.2:p.Pro1269Leu
ENST00000367400.7:c.4142C>T	ENSP00000356370.3:p.Pro1381Leu
ENST00000448952.1:c.376C>T	ENSP00000395407.1:n.376C>T
ENST00000484075.5:c.*253C>T	ENSP00000433932.1:n.*253C>T
ENST00000535699.5:c.4070C>T	ENSP00000438786.1:p.Pro1357Leu
ENST00000538660.5:c.2534C>T	ENSP00000438091.1:p.Pro845Leu
XM_011509366.1:c.*247C>T	XP_011507668.1:n.*247C>T
XM_011509367.1:c.*121C>T	XP_011507669.1:n.*121C>T
XM_011509368.1:c.3560C>T	XP_011507670.1:p.Pro1187Leu
XM_011509369.1:c.2585C>T	XP_011507671.1:p.Pro862Leu
XM_011509369.2:c.2585C>T	XP_011507671.1:p.Pro862Leu
XM_017000851.1:c.3299C>T	XP_016856340.1:p.Pro1100Leu
XM_017000852.1:c.4277C>T	XP_016856341.1:p.Pro1426Leu