Canonical Allele Identifier: CA344042970

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403845A>C (hg19) ; chr1:g.197434715A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434715A>C , CM000663.2:g.197434715A>C	GRCh38
NC_000001.10:g.197403845A>C , CM000663.1:g.197403845A>C	GRCh37
NC_000001.9:g.195670468A>C	NCBI36
NG_008483.1:g.171438A>C
NG_008483.2:g.238254A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2852A>C MANE Select	ENSP00000356370.3:p.Asn951Thr
ENST00000638467.1:c.2852A>C	ENSP00000491102.1:p.Asn951Thr
ENST00000681519.1:c.1733A>C	ENSP00000505267.1:p.Asn578Thr
ENST00000367397.1:c.995A>C	ENSP00000356367.1:p.Asn332Thr
ENST00000367399.6:c.2516A>C	ENSP00000356369.2:p.Asn839Thr
ENST00000367400.7:c.2852A>C	ENSP00000356370.3:p.Asn951Thr
ENST00000484075.5:c.2852A>C	ENSP00000433932.1:p.Asn951Thr
ENST00000535699.5:c.2780A>C	ENSP00000438786.1:p.Asn927Thr
ENST00000538660.5:c.2129-885A>C	ENSP00000438091.1:n.2129-885A>C
NM_001193640.1:c.2516A>C	NP_001180569.1:p.Asn839Thr
NM_001257965.1:c.2780A>C	NP_001244894.1:p.Asn927Thr
NM_001257966.1:c.2129-885A>C	NP_001244895.1:n.2129-885A>C
NM_201253.2:c.2852A>C	NP_957705.1:p.Asn951Thr
NR_047563.1:n.2853A>C
NR_047564.1:n.3061A>C
XM_011509365.1:c.2852A>C	XP_011507667.1:p.Asn951Thr
XM_011509366.1:c.2852A>C	XP_011507668.1:p.Asn951Thr
XM_011509367.1:c.2852A>C	XP_011507669.1:p.Asn951Thr
XM_011509368.1:c.2270A>C	XP_011507670.1:p.Asn757Thr
XM_011509369.1:c.1295A>C	XP_011507671.1:p.Asn432Thr
XM_011509365.2:c.2852A>C	XP_011507667.1:p.Asn951Thr
XM_011509369.2:c.1295A>C	XP_011507671.1:p.Asn432Thr
XM_017000851.1:c.2009A>C	XP_016856340.1:p.Asn670Thr
XM_017000852.1:c.2987A>C	XP_016856341.1:p.Asn996Thr
NM_201253.3:c.2852A>C MANE Select	NP_957705.1:p.Asn951Thr
NM_001193640.2:c.2516A>C	NP_001180569.1:p.Asn839Thr
NM_001257965.2:c.2780A>C	NP_001244894.1:p.Asn927Thr
NR_047563.2:n.2805A>C
NR_047564.2:n.3013A>C
NM_001257966.2:c.2129-885A>C	NP_001244895.1:n.2129-885A>C