Canonical Allele Identifier: CA344044291

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403975A>T (hg19) ; chr1:g.197434845A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434845A>T , CM000663.2:g.197434845A>T	GRCh38
NC_000001.10:g.197403975A>T , CM000663.1:g.197403975A>T	GRCh37
NC_000001.9:g.195670598A>T	NCBI36
NG_008483.1:g.171568A>T
NG_008483.2:g.238384A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2982A>T MANE Select	ENSP00000356370.3:p.Lys994Asn
ENST00000638467.1:c.2982A>T	ENSP00000491102.1:p.Lys994Asn
ENST00000681519.1:c.1863A>T	ENSP00000505267.1:p.Lys621Asn
ENST00000367397.1:c.1125A>T	ENSP00000356367.1:p.Lys375Asn
ENST00000367399.6:c.2646A>T	ENSP00000356369.2:p.Lys882Asn
ENST00000367400.7:c.2982A>T	ENSP00000356370.3:p.Lys994Asn
ENST00000484075.5:c.2982A>T	ENSP00000433932.1:p.Lys994Asn
ENST00000535699.5:c.2910A>T	ENSP00000438786.1:p.Lys970Asn
ENST00000538660.5:c.2129-755A>T	ENSP00000438091.1:n.2129-755A>T
NM_001193640.1:c.2646A>T	NP_001180569.1:p.Lys882Asn
NM_001257965.1:c.2910A>T	NP_001244894.1:p.Lys970Asn
NM_001257966.1:c.2129-755A>T	NP_001244895.1:n.2129-755A>T
NM_201253.2:c.2982A>T	NP_957705.1:p.Lys994Asn
NR_047563.1:n.2983A>T
NR_047564.1:n.3191A>T
XM_011509365.1:c.2982A>T	XP_011507667.1:p.Lys994Asn
XM_011509366.1:c.2982A>T	XP_011507668.1:p.Lys994Asn
XM_011509367.1:c.2982A>T	XP_011507669.1:p.Lys994Asn
XM_011509368.1:c.2400A>T	XP_011507670.1:p.Lys800Asn
XM_011509369.1:c.1425A>T	XP_011507671.1:p.Lys475Asn
XM_011509365.2:c.2982A>T	XP_011507667.1:p.Lys994Asn
XM_011509369.2:c.1425A>T	XP_011507671.1:p.Lys475Asn
XM_017000851.1:c.2139A>T	XP_016856340.1:p.Lys713Asn
XM_017000852.1:c.3117A>T	XP_016856341.1:p.Lys1039Asn
NM_201253.3:c.2982A>T MANE Select	NP_957705.1:p.Lys994Asn
NM_001193640.2:c.2646A>T	NP_001180569.1:p.Lys882Asn
NM_001257965.2:c.2910A>T	NP_001244894.1:p.Lys970Asn
NR_047563.2:n.2935A>T
NR_047564.2:n.3143A>T
NM_001257966.2:c.2129-755A>T	NP_001244895.1:n.2129-755A>T