Canonical Allele Identifier: CA344032360

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390693A>C (hg19) ; chr1:g.197421563A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421563A>C , CM000663.2:g.197421563A>C	GRCh38
NC_000001.10:g.197390693A>C , CM000663.1:g.197390693A>C	GRCh37
NC_000001.9:g.195657316A>C	NCBI36
NG_008483.1:g.158286A>C
NG_008483.2:g.225102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1735A>C MANE Select	ENSP00000356370.3:p.Thr579Pro
ENST00000638467.1:c.1735A>C	ENSP00000491102.1:p.Thr579Pro
ENST00000681519.1:c.616A>C	ENSP00000505267.1:p.Thr206Pro
ENST00000367397.1:c.-123A>C	ENSP00000356367.1:n.-123A>C
ENST00000367399.6:c.1399A>C	ENSP00000356369.2:p.Thr467Pro
ENST00000367400.7:c.1735A>C	ENSP00000356370.3:p.Thr579Pro
ENST00000484075.5:c.1735A>C	ENSP00000433932.1:p.Thr579Pro
ENST00000535699.5:c.1528A>C	ENSP00000438786.1:p.Thr510Pro
ENST00000538660.5:c.1735A>C	ENSP00000438091.1:p.Thr579Pro
NM_001193640.1:c.1399A>C	NP_001180569.1:p.Thr467Pro
NM_001257965.1:c.1528A>C	NP_001244894.1:p.Thr510Pro
NM_001257966.1:c.1735A>C	NP_001244895.1:p.Thr579Pro
NM_201253.2:c.1735A>C	NP_957705.1:p.Thr579Pro
NR_047563.1:n.1922+22A>C
NR_047564.1:n.1944A>C
XM_011509365.1:c.1735A>C	XP_011507667.1:p.Thr579Pro
XM_011509366.1:c.1735A>C	XP_011507668.1:p.Thr579Pro
XM_011509367.1:c.1735A>C	XP_011507669.1:p.Thr579Pro
XM_011509368.1:c.1153A>C	XP_011507670.1:p.Thr385Pro
XM_011509369.1:c.178A>C	XP_011507671.1:p.Thr60Pro
XM_011509365.2:c.1735A>C	XP_011507667.1:p.Thr579Pro
XM_011509369.2:c.178A>C	XP_011507671.1:p.Thr60Pro
XM_017000851.1:c.892A>C	XP_016856340.1:p.Thr298Pro
XM_017000852.1:c.1735A>C	XP_016856341.1:p.Thr579Pro
NM_201253.3:c.1735A>C MANE Select	NP_957705.1:p.Thr579Pro
NM_001193640.2:c.1399A>C	NP_001180569.1:p.Thr467Pro
NM_001257965.2:c.1528A>C	NP_001244894.1:p.Thr510Pro
NR_047563.2:n.1874+22A>C
NR_047564.2:n.1896A>C
NM_001257966.2:c.1735A>C	NP_001244895.1:p.Thr579Pro