Canonical Allele Identifier: CA344049644

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435405G>C , CM000663.2:g.197435405G>C	GRCh38
NC_000001.10:g.197404535G>C , CM000663.1:g.197404535G>C	GRCh37
NC_000001.9:g.195671158G>C	NCBI36
NG_008483.1:g.172128G>C
NG_008483.2:g.238944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3542G>C MANE Select	ENSP00000356370.3:p.Cys1181Ser
ENST00000638467.1:c.3542G>C	ENSP00000491102.1:p.Cys1181Ser
ENST00000681519.1:c.2423G>C	ENSP00000505267.1:p.Cys808Ser
ENST00000367397.1:c.1685G>C	ENSP00000356367.1:p.Cys562Ser
ENST00000367399.6:c.3206G>C	ENSP00000356369.2:p.Cys1069Ser
ENST00000367400.7:c.3542G>C	ENSP00000356370.3:p.Cys1181Ser
ENST00000484075.5:c.3542G>C	ENSP00000433932.1:p.Cys1181Ser
ENST00000535699.5:c.3470G>C	ENSP00000438786.1:p.Cys1157Ser
ENST00000538660.5:c.2129-195G>C	ENSP00000438091.1:n.2129-195G>C
NM_001193640.1:c.3206G>C	NP_001180569.1:p.Cys1069Ser
NM_001257965.1:c.3470G>C	NP_001244894.1:p.Cys1157Ser
NM_001257966.1:c.2129-195G>C	NP_001244895.1:n.2129-195G>C
NM_201253.2:c.3542G>C	NP_957705.1:p.Cys1181Ser
NR_047563.1:n.3543G>C
NR_047564.1:n.3751G>C
XM_011509365.1:c.3542G>C	XP_011507667.1:p.Cys1181Ser
XM_011509366.1:c.3542G>C	XP_011507668.1:p.Cys1181Ser
XM_011509367.1:c.3542G>C	XP_011507669.1:p.Cys1181Ser
XM_011509368.1:c.2960G>C	XP_011507670.1:p.Cys987Ser
XM_011509369.1:c.1985G>C	XP_011507671.1:p.Cys662Ser
XM_011509365.2:c.3542G>C	XP_011507667.1:p.Cys1181Ser
XM_011509369.2:c.1985G>C	XP_011507671.1:p.Cys662Ser
XM_017000851.1:c.2699G>C	XP_016856340.1:p.Cys900Ser
XM_017000852.1:c.3677G>C	XP_016856341.1:p.Cys1226Ser
NM_201253.3:c.3542G>C MANE Select	NP_957705.1:p.Cys1181Ser
NM_001193640.2:c.3206G>C	NP_001180569.1:p.Cys1069Ser
NM_001257965.2:c.3470G>C	NP_001244894.1:p.Cys1157Ser
NR_047563.2:n.3495G>C
NR_047564.2:n.3703G>C
NM_001257966.2:c.2129-195G>C	NP_001244895.1:n.2129-195G>C