Canonical Allele Identifier: CA344035467

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446825C>A (hg19) ; chr1:g.197477695C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477695C>A , CM000663.2:g.197477695C>A	GRCh38
NC_000001.10:g.197446825C>A , CM000663.1:g.197446825C>A	GRCh37
NC_000001.9:g.195713448C>A	NCBI36
NG_008483.1:g.214418C>A
NG_008483.2:g.281234C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4037C>A MANE Select	ENSP00000356370.3:p.Thr1346Asn
ENST00000367399.6:c.3701C>A	ENSP00000356369.2:p.Thr1234Asn
ENST00000367400.7:c.4037C>A	ENSP00000356370.3:p.Thr1346Asn
ENST00000448952.1:c.271C>A	ENSP00000395407.1:n.271C>A
ENST00000484075.5:c.*148C>A	ENSP00000433932.1:n.*148C>A
ENST00000535699.5:c.3965C>A	ENSP00000438786.1:p.Thr1322Asn
ENST00000538660.5:c.2429C>A	ENSP00000438091.1:p.Thr810Asn
NM_001193640.1:c.3701C>A	NP_001180569.1:p.Thr1234Asn
NM_001257965.1:c.3965C>A	NP_001244894.1:p.Thr1322Asn
NM_001257966.1:c.2429C>A	NP_001244895.1:p.Thr810Asn
NM_201253.2:c.4037C>A	NP_957705.1:p.Thr1346Asn
NR_047563.1:n.4038C>A
NR_047564.1:n.4488C>A
XM_011509366.1:c.*142C>A	XP_011507668.1:n.*142C>A
XM_011509367.1:c.*16C>A	XP_011507669.1:n.*16C>A
XM_011509368.1:c.3455C>A	XP_011507670.1:p.Thr1152Asn
XM_011509369.1:c.2480C>A	XP_011507671.1:p.Thr827Asn
XM_011509369.2:c.2480C>A	XP_011507671.1:p.Thr827Asn
XM_017000851.1:c.3194C>A	XP_016856340.1:p.Thr1065Asn
XM_017000852.1:c.4172C>A	XP_016856341.1:p.Thr1391Asn
NM_201253.3:c.4037C>A MANE Select	NP_957705.1:p.Thr1346Asn
NM_001193640.2:c.3701C>A	NP_001180569.1:p.Thr1234Asn
NM_001257965.2:c.3965C>A	NP_001244894.1:p.Thr1322Asn
NR_047563.2:n.3990C>A
NR_047564.2:n.4440C>A
NM_001257966.2:c.2429C>A	NP_001244895.1:p.Thr810Asn