Canonical Allele Identifier: CA344043396

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403896A>G (hg19) ; chr1:g.197434766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434766A>G , CM000663.2:g.197434766A>G	GRCh38
NC_000001.10:g.197403896A>G , CM000663.1:g.197403896A>G	GRCh37
NC_000001.9:g.195670519A>G	NCBI36
NG_008483.1:g.171489A>G
NG_008483.2:g.238305A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2903A>G MANE Select	ENSP00000356370.3:p.Asn968Ser
ENST00000638467.1:c.2903A>G	ENSP00000491102.1:p.Asn968Ser
ENST00000681519.1:c.1784A>G	ENSP00000505267.1:p.Asn595Ser
ENST00000367397.1:c.1046A>G	ENSP00000356367.1:p.Asn349Ser
ENST00000367399.6:c.2567A>G	ENSP00000356369.2:p.Asn856Ser
ENST00000367400.7:c.2903A>G	ENSP00000356370.3:p.Asn968Ser
ENST00000484075.5:c.2903A>G	ENSP00000433932.1:p.Asn968Ser
ENST00000535699.5:c.2831A>G	ENSP00000438786.1:p.Asn944Ser
ENST00000538660.5:c.2129-834A>G	ENSP00000438091.1:n.2129-834A>G
NM_001193640.1:c.2567A>G	NP_001180569.1:p.Asn856Ser
NM_001257965.1:c.2831A>G	NP_001244894.1:p.Asn944Ser
NM_001257966.1:c.2129-834A>G	NP_001244895.1:n.2129-834A>G
NM_201253.2:c.2903A>G	NP_957705.1:p.Asn968Ser
NR_047563.1:n.2904A>G
NR_047564.1:n.3112A>G
XM_011509365.1:c.2903A>G	XP_011507667.1:p.Asn968Ser
XM_011509366.1:c.2903A>G	XP_011507668.1:p.Asn968Ser
XM_011509367.1:c.2903A>G	XP_011507669.1:p.Asn968Ser
XM_011509368.1:c.2321A>G	XP_011507670.1:p.Asn774Ser
XM_011509369.1:c.1346A>G	XP_011507671.1:p.Asn449Ser
XM_011509365.2:c.2903A>G	XP_011507667.1:p.Asn968Ser
XM_011509369.2:c.1346A>G	XP_011507671.1:p.Asn449Ser
XM_017000851.1:c.2060A>G	XP_016856340.1:p.Asn687Ser
XM_017000852.1:c.3038A>G	XP_016856341.1:p.Asn1013Ser
NM_201253.3:c.2903A>G MANE Select	NP_957705.1:p.Asn968Ser
NM_001193640.2:c.2567A>G	NP_001180569.1:p.Asn856Ser
NM_001257965.2:c.2831A>G	NP_001244894.1:p.Asn944Ser
NR_047563.2:n.2856A>G
NR_047564.2:n.3064A>G
NM_001257966.2:c.2129-834A>G	NP_001244895.1:n.2129-834A>G