Canonical Allele Identifier: CA344031658

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390562T>A (hg19) ; chr1:g.197421432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421432T>A , CM000663.2:g.197421432T>A	GRCh38
NC_000001.10:g.197390562T>A , CM000663.1:g.197390562T>A	GRCh37
NC_000001.9:g.195657185T>A	NCBI36
NG_008483.1:g.158155T>A
NG_008483.2:g.224971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1604T>A MANE Select	ENSP00000356370.3:p.Leu535Gln
ENST00000638467.1:c.1604T>A	ENSP00000491102.1:p.Leu535Gln
ENST00000681519.1:c.485T>A	ENSP00000505267.1:p.Leu162Gln
ENST00000367397.1:c.-254T>A	ENSP00000356367.1:n.-254T>A
ENST00000367399.6:c.1268T>A	ENSP00000356369.2:p.Leu423Gln
ENST00000367400.7:c.1604T>A	ENSP00000356370.3:p.Leu535Gln
ENST00000476483.1:n.564T>A
ENST00000484075.5:c.1604T>A	ENSP00000433932.1:p.Leu535Gln
ENST00000535699.5:c.1397T>A	ENSP00000438786.1:p.Leu466Gln
ENST00000538660.5:c.1604T>A	ENSP00000438091.1:p.Leu535Gln
NM_001193640.1:c.1268T>A	NP_001180569.1:p.Leu423Gln
NM_001257965.1:c.1397T>A	NP_001244894.1:p.Leu466Gln
NM_001257966.1:c.1604T>A	NP_001244895.1:p.Leu535Gln
NM_201253.2:c.1604T>A	NP_957705.1:p.Leu535Gln
NR_047563.1:n.1813T>A
NR_047564.1:n.1813T>A
XM_011509365.1:c.1604T>A	XP_011507667.1:p.Leu535Gln
XM_011509366.1:c.1604T>A	XP_011507668.1:p.Leu535Gln
XM_011509367.1:c.1604T>A	XP_011507669.1:p.Leu535Gln
XM_011509368.1:c.1022T>A	XP_011507670.1:p.Leu341Gln
XM_011509369.1:c.47T>A	XP_011507671.1:p.Leu16Gln
XM_011509365.2:c.1604T>A	XP_011507667.1:p.Leu535Gln
XM_011509369.2:c.47T>A	XP_011507671.1:p.Leu16Gln
XM_017000851.1:c.761T>A	XP_016856340.1:p.Leu254Gln
XM_017000852.1:c.1604T>A	XP_016856341.1:p.Leu535Gln
NM_201253.3:c.1604T>A MANE Select	NP_957705.1:p.Leu535Gln
NM_001193640.2:c.1268T>A	NP_001180569.1:p.Leu423Gln
NM_001257965.2:c.1397T>A	NP_001244894.1:p.Leu466Gln
NR_047563.2:n.1765T>A
NR_047564.2:n.1765T>A
NM_001257966.2:c.1604T>A	NP_001244895.1:p.Leu535Gln