Canonical Allele Identifier: CA344037064

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396824A>C (hg19) ; chr1:g.197427694A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427694A>C , CM000663.2:g.197427694A>C	GRCh38
NC_000001.10:g.197396824A>C , CM000663.1:g.197396824A>C	GRCh37
NC_000001.9:g.195663447A>C	NCBI36
NG_008483.1:g.164417A>C
NG_008483.2:g.231233A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2369A>C MANE Select	ENSP00000356370.3:p.Asp790Ala
ENST00000638467.1:c.2369A>C	ENSP00000491102.1:p.Asp790Ala
ENST00000681519.1:c.1250A>C	ENSP00000505267.1:p.Asp417Ala
ENST00000367397.1:c.512A>C	ENSP00000356367.1:p.Asp171Ala
ENST00000367399.6:c.2033A>C	ENSP00000356369.2:p.Asp678Ala
ENST00000367400.7:c.2369A>C	ENSP00000356370.3:p.Asp790Ala
ENST00000480086.2:n.270A>C
ENST00000484075.5:c.2369A>C	ENSP00000433932.1:p.Asp790Ala
ENST00000535699.5:c.2162A>C	ENSP00000438786.1:p.Asp721Ala
ENST00000538660.5:c.2128+5738A>C	ENSP00000438091.1:n.2128+5738A>C
NM_001193640.1:c.2033A>C	NP_001180569.1:p.Asp678Ala
NM_001257965.1:c.2162A>C	NP_001244894.1:p.Asp721Ala
NM_001257966.1:c.2128+5738A>C	NP_001244895.1:n.2128+5738A>C
NM_201253.2:c.2369A>C	NP_957705.1:p.Asp790Ala
NR_047563.1:n.2370A>C
NR_047564.1:n.2578A>C
XM_011509365.1:c.2369A>C	XP_011507667.1:p.Asp790Ala
XM_011509366.1:c.2369A>C	XP_011507668.1:p.Asp790Ala
XM_011509367.1:c.2369A>C	XP_011507669.1:p.Asp790Ala
XM_011509368.1:c.1787A>C	XP_011507670.1:p.Asp596Ala
XM_011509369.1:c.812A>C	XP_011507671.1:p.Asp271Ala
XM_011509365.2:c.2369A>C	XP_011507667.1:p.Asp790Ala
XM_011509369.2:c.812A>C	XP_011507671.1:p.Asp271Ala
XM_017000851.1:c.1526A>C	XP_016856340.1:p.Asp509Ala
XM_017000852.1:c.2369A>C	XP_016856341.1:p.Asp790Ala
NM_201253.3:c.2369A>C MANE Select	NP_957705.1:p.Asp790Ala
NM_001193640.2:c.2033A>C	NP_001180569.1:p.Asp678Ala
NM_001257965.2:c.2162A>C	NP_001244894.1:p.Asp721Ala
NR_047563.2:n.2322A>C
NR_047564.2:n.2530A>C
NM_001257966.2:c.2128+5738A>C	NP_001244895.1:n.2128+5738A>C