Canonical Allele Identifier: CA344030773

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390365C>G (hg19) ; chr1:g.197421235C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421235C>G , CM000663.2:g.197421235C>G	GRCh38
NC_000001.10:g.197390365C>G , CM000663.1:g.197390365C>G	GRCh37
NC_000001.9:g.195656988C>G	NCBI36
NG_008483.1:g.157958C>G
NG_008483.2:g.224774C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1407C>G MANE Select	ENSP00000356370.3:p.Cys469Trp
ENST00000638467.1:c.1407C>G	ENSP00000491102.1:p.Cys469Trp
ENST00000681519.1:c.288C>G	ENSP00000505267.1:p.Cys96Trp
ENST00000367397.1:c.-451C>G	ENSP00000356367.1:n.-451C>G
ENST00000367399.6:c.1071C>G	ENSP00000356369.2:p.Cys357Trp
ENST00000367400.7:c.1407C>G	ENSP00000356370.3:p.Cys469Trp
ENST00000476483.1:n.367C>G
ENST00000484075.5:c.1407C>G	ENSP00000433932.1:p.Cys469Trp
ENST00000535699.5:c.1200C>G	ENSP00000438786.1:p.Cys400Trp
ENST00000538660.5:c.1407C>G	ENSP00000438091.1:p.Cys469Trp
NM_001193640.1:c.1071C>G	NP_001180569.1:p.Cys357Trp
NM_001257965.1:c.1200C>G	NP_001244894.1:p.Cys400Trp
NM_001257966.1:c.1407C>G	NP_001244895.1:p.Cys469Trp
NM_201253.2:c.1407C>G	NP_957705.1:p.Cys469Trp
NR_047563.1:n.1616C>G
NR_047564.1:n.1616C>G
XM_011509365.1:c.1407C>G	XP_011507667.1:p.Cys469Trp
XM_011509366.1:c.1407C>G	XP_011507668.1:p.Cys469Trp
XM_011509367.1:c.1407C>G	XP_011507669.1:p.Cys469Trp
XM_011509368.1:c.825C>G	XP_011507670.1:p.Cys275Trp
XM_011509369.1:c.-151C>G	XP_011507671.1:n.-151C>G
XM_011509365.2:c.1407C>G	XP_011507667.1:p.Cys469Trp
XM_011509369.2:c.-151C>G	XP_011507671.1:n.-151C>G
XM_017000851.1:c.564C>G	XP_016856340.1:p.Cys188Trp
XM_017000852.1:c.1407C>G	XP_016856341.1:p.Cys469Trp
NM_201253.3:c.1407C>G MANE Select	NP_957705.1:p.Cys469Trp
NM_001193640.2:c.1071C>G	NP_001180569.1:p.Cys357Trp
NM_001257965.2:c.1200C>G	NP_001244894.1:p.Cys400Trp
NR_047563.2:n.1568C>G
NR_047564.2:n.1568C>G
NM_001257966.2:c.1407C>G	NP_001244895.1:p.Cys469Trp