Canonical Allele Identifier: CA344043919

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403945T>A (hg19) ; chr1:g.197434815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434815T>A , CM000663.2:g.197434815T>A	GRCh38
NC_000001.10:g.197403945T>A , CM000663.1:g.197403945T>A	GRCh37
NC_000001.9:g.195670568T>A	NCBI36
NG_008483.1:g.171538T>A
NG_008483.2:g.238354T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2952T>A MANE Select	ENSP00000356370.3:p.Asp984Glu
ENST00000638467.1:c.2952T>A	ENSP00000491102.1:p.Asp984Glu
ENST00000681519.1:c.1833T>A	ENSP00000505267.1:p.Asp611Glu
ENST00000367397.1:c.1095T>A	ENSP00000356367.1:p.Asp365Glu
ENST00000367399.6:c.2616T>A	ENSP00000356369.2:p.Asp872Glu
ENST00000367400.7:c.2952T>A	ENSP00000356370.3:p.Asp984Glu
ENST00000484075.5:c.2952T>A	ENSP00000433932.1:p.Asp984Glu
ENST00000535699.5:c.2880T>A	ENSP00000438786.1:p.Asp960Glu
ENST00000538660.5:c.2129-785T>A	ENSP00000438091.1:n.2129-785T>A
NM_001193640.1:c.2616T>A	NP_001180569.1:p.Asp872Glu
NM_001257965.1:c.2880T>A	NP_001244894.1:p.Asp960Glu
NM_001257966.1:c.2129-785T>A	NP_001244895.1:n.2129-785T>A
NM_201253.2:c.2952T>A	NP_957705.1:p.Asp984Glu
NR_047563.1:n.2953T>A
NR_047564.1:n.3161T>A
XM_011509365.1:c.2952T>A	XP_011507667.1:p.Asp984Glu
XM_011509366.1:c.2952T>A	XP_011507668.1:p.Asp984Glu
XM_011509367.1:c.2952T>A	XP_011507669.1:p.Asp984Glu
XM_011509368.1:c.2370T>A	XP_011507670.1:p.Asp790Glu
XM_011509369.1:c.1395T>A	XP_011507671.1:p.Asp465Glu
XM_011509365.2:c.2952T>A	XP_011507667.1:p.Asp984Glu
XM_011509369.2:c.1395T>A	XP_011507671.1:p.Asp465Glu
XM_017000851.1:c.2109T>A	XP_016856340.1:p.Asp703Glu
XM_017000852.1:c.3087T>A	XP_016856341.1:p.Asp1029Glu
NM_201253.3:c.2952T>A MANE Select	NP_957705.1:p.Asp984Glu
NM_001193640.2:c.2616T>A	NP_001180569.1:p.Asp872Glu
NM_001257965.2:c.2880T>A	NP_001244894.1:p.Asp960Glu
NR_047563.2:n.2905T>A
NR_047564.2:n.3113T>A
NM_001257966.2:c.2129-785T>A	NP_001244895.1:n.2129-785T>A