Canonical Allele Identifier: CA344043809

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403937A>C (hg19) ; chr1:g.197434807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434807A>C , CM000663.2:g.197434807A>C	GRCh38
NC_000001.10:g.197403937A>C , CM000663.1:g.197403937A>C	GRCh37
NC_000001.9:g.195670560A>C	NCBI36
NG_008483.1:g.171530A>C
NG_008483.2:g.238346A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2944A>C MANE Select	ENSP00000356370.3:p.Thr982Pro
ENST00000638467.1:c.2944A>C	ENSP00000491102.1:p.Thr982Pro
ENST00000681519.1:c.1825A>C	ENSP00000505267.1:p.Thr609Pro
ENST00000367397.1:c.1087A>C	ENSP00000356367.1:p.Thr363Pro
ENST00000367399.6:c.2608A>C	ENSP00000356369.2:p.Thr870Pro
ENST00000367400.7:c.2944A>C	ENSP00000356370.3:p.Thr982Pro
ENST00000484075.5:c.2944A>C	ENSP00000433932.1:p.Thr982Pro
ENST00000535699.5:c.2872A>C	ENSP00000438786.1:p.Thr958Pro
ENST00000538660.5:c.2129-793A>C	ENSP00000438091.1:n.2129-793A>C
NM_001193640.1:c.2608A>C	NP_001180569.1:p.Thr870Pro
NM_001257965.1:c.2872A>C	NP_001244894.1:p.Thr958Pro
NM_001257966.1:c.2129-793A>C	NP_001244895.1:n.2129-793A>C
NM_201253.2:c.2944A>C	NP_957705.1:p.Thr982Pro
NR_047563.1:n.2945A>C
NR_047564.1:n.3153A>C
XM_011509365.1:c.2944A>C	XP_011507667.1:p.Thr982Pro
XM_011509366.1:c.2944A>C	XP_011507668.1:p.Thr982Pro
XM_011509367.1:c.2944A>C	XP_011507669.1:p.Thr982Pro
XM_011509368.1:c.2362A>C	XP_011507670.1:p.Thr788Pro
XM_011509369.1:c.1387A>C	XP_011507671.1:p.Thr463Pro
XM_011509365.2:c.2944A>C	XP_011507667.1:p.Thr982Pro
XM_011509369.2:c.1387A>C	XP_011507671.1:p.Thr463Pro
XM_017000851.1:c.2101A>C	XP_016856340.1:p.Thr701Pro
XM_017000852.1:c.3079A>C	XP_016856341.1:p.Thr1027Pro
NM_201253.3:c.2944A>C MANE Select	NP_957705.1:p.Thr982Pro
NM_001193640.2:c.2608A>C	NP_001180569.1:p.Thr870Pro
NM_001257965.2:c.2872A>C	NP_001244894.1:p.Thr958Pro
NR_047563.2:n.2897A>C
NR_047564.2:n.3105A>C
NM_001257966.2:c.2129-793A>C	NP_001244895.1:n.2129-793A>C