Canonical Allele Identifier: CA344040406

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197398595A>C (hg19) ; chr1:g.197429465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429465A>C , CM000663.2:g.197429465A>C	GRCh38
NC_000001.10:g.197398595A>C , CM000663.1:g.197398595A>C	GRCh37
NC_000001.9:g.195665218A>C	NCBI36
NG_008483.1:g.166188A>C
NG_008483.2:g.233004A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2693A>C MANE Select	ENSP00000356370.3:p.Asn898Thr
ENST00000638467.1:c.2693A>C	ENSP00000491102.1:p.Asn898Thr
ENST00000681519.1:c.1574A>C	ENSP00000505267.1:p.Asn525Thr
ENST00000367397.1:c.836A>C	ENSP00000356367.1:p.Asn279Thr
ENST00000367399.6:c.2357A>C	ENSP00000356369.2:p.Asn786Thr
ENST00000367400.7:c.2693A>C	ENSP00000356370.3:p.Asn898Thr
ENST00000484075.5:c.2693A>C	ENSP00000433932.1:p.Asn898Thr
ENST00000535699.5:c.2621A>C	ENSP00000438786.1:p.Asn874Thr
ENST00000538660.5:c.2129-6135A>C	ENSP00000438091.1:n.2129-6135A>C
NM_001193640.1:c.2357A>C	NP_001180569.1:p.Asn786Thr
NM_001257965.1:c.2621A>C	NP_001244894.1:p.Asn874Thr
NM_001257966.1:c.2129-6135A>C	NP_001244895.1:n.2129-6135A>C
NM_201253.2:c.2693A>C	NP_957705.1:p.Asn898Thr
NR_047563.1:n.2694A>C
NR_047564.1:n.2902A>C
XM_011509365.1:c.2693A>C	XP_011507667.1:p.Asn898Thr
XM_011509366.1:c.2693A>C	XP_011507668.1:p.Asn898Thr
XM_011509367.1:c.2693A>C	XP_011507669.1:p.Asn898Thr
XM_011509368.1:c.2111A>C	XP_011507670.1:p.Asn704Thr
XM_011509369.1:c.1136A>C	XP_011507671.1:p.Asn379Thr
XM_011509365.2:c.2693A>C	XP_011507667.1:p.Asn898Thr
XM_011509369.2:c.1136A>C	XP_011507671.1:p.Asn379Thr
XM_017000851.1:c.1850A>C	XP_016856340.1:p.Asn617Thr
XM_017000852.1:c.2828A>C	XP_016856341.1:p.Asn943Thr
NM_201253.3:c.2693A>C MANE Select	NP_957705.1:p.Asn898Thr
NM_001193640.2:c.2357A>C	NP_001180569.1:p.Asn786Thr
NM_001257965.2:c.2621A>C	NP_001244894.1:p.Asn874Thr
NR_047563.2:n.2646A>C
NR_047564.2:n.2854A>C
NM_001257966.2:c.2129-6135A>C	NP_001244895.1:n.2129-6135A>C