Canonical Allele Identifier: CA344036064

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446992A>T (hg19) ; chr1:g.197477862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477862A>T , CM000663.2:g.197477862A>T	GRCh38
NC_000001.10:g.197446992A>T , CM000663.1:g.197446992A>T	GRCh37
NC_000001.9:g.195713615A>T	NCBI36
NG_008483.1:g.214585A>T
NG_008483.2:g.281401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4204A>T MANE Select	ENSP00000356370.3:p.Met1402Leu
ENST00000367399.6:c.3868A>T	ENSP00000356369.2:p.Met1290Leu
ENST00000367400.7:c.4204A>T	ENSP00000356370.3:p.Met1402Leu
ENST00000448952.1:c.438A>T	ENSP00000395407.1:n.438A>T
ENST00000484075.5:c.*315A>T	ENSP00000433932.1:n.*315A>T
ENST00000535699.5:c.4132A>T	ENSP00000438786.1:p.Met1378Leu
ENST00000538660.5:c.2596A>T	ENSP00000438091.1:p.Met866Leu
NM_001193640.1:c.3868A>T	NP_001180569.1:p.Met1290Leu
NM_001257965.1:c.4132A>T	NP_001244894.1:p.Met1378Leu
NM_001257966.1:c.2596A>T	NP_001244895.1:p.Met866Leu
NM_201253.2:c.4204A>T	NP_957705.1:p.Met1402Leu
NR_047563.1:n.4205A>T
NR_047564.1:n.4655A>T
XM_011509366.1:c.*309A>T	XP_011507668.1:n.*309A>T
XM_011509367.1:c.*183A>T	XP_011507669.1:n.*183A>T
XM_011509368.1:c.3622A>T	XP_011507670.1:p.Met1208Leu
XM_011509369.1:c.2647A>T	XP_011507671.1:p.Met883Leu
XM_011509369.2:c.2647A>T	XP_011507671.1:p.Met883Leu
XM_017000851.1:c.3361A>T	XP_016856340.1:p.Met1121Leu
XM_017000852.1:c.4339A>T	XP_016856341.1:p.Met1447Leu
NM_201253.3:c.4204A>T MANE Select	NP_957705.1:p.Met1402Leu
NM_001193640.2:c.3868A>T	NP_001180569.1:p.Met1290Leu
NM_001257965.2:c.4132A>T	NP_001244894.1:p.Met1378Leu
NR_047563.2:n.4157A>T
NR_047564.2:n.4607A>T
NM_001257966.2:c.2596A>T	NP_001244895.1:p.Met866Leu