Canonical Allele Identifier: CA344038463

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397052C>T (hg19) ; chr1:g.197427922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427922C>T , CM000663.2:g.197427922C>T	GRCh38
NC_000001.10:g.197397052C>T , CM000663.1:g.197397052C>T	GRCh37
NC_000001.9:g.195663675C>T	NCBI36
NG_008483.1:g.164645C>T
NG_008483.2:g.231461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2597C>T MANE Select	ENSP00000356370.3:p.Pro866Leu
ENST00000638467.1:c.2597C>T	ENSP00000491102.1:p.Pro866Leu
ENST00000681519.1:c.1478C>T	ENSP00000505267.1:p.Pro493Leu
ENST00000367397.1:c.740C>T	ENSP00000356367.1:p.Pro247Leu
ENST00000367399.6:c.2261C>T	ENSP00000356369.2:p.Pro754Leu
ENST00000367400.7:c.2597C>T	ENSP00000356370.3:p.Pro866Leu
ENST00000484075.5:c.2597C>T	ENSP00000433932.1:p.Pro866Leu
ENST00000535699.5:c.2390C>T	ENSP00000438786.1:p.Pro797Leu
ENST00000538660.5:c.2128+5966C>T	ENSP00000438091.1:n.2128+5966C>T
NM_001193640.1:c.2261C>T	NP_001180569.1:p.Pro754Leu
NM_001257965.1:c.2390C>T	NP_001244894.1:p.Pro797Leu
NM_001257966.1:c.2128+5966C>T	NP_001244895.1:n.2128+5966C>T
NM_201253.2:c.2597C>T	NP_957705.1:p.Pro866Leu
NR_047563.1:n.2598C>T
NR_047564.1:n.2806C>T
XM_011509365.1:c.2597C>T	XP_011507667.1:p.Pro866Leu
XM_011509366.1:c.2597C>T	XP_011507668.1:p.Pro866Leu
XM_011509367.1:c.2597C>T	XP_011507669.1:p.Pro866Leu
XM_011509368.1:c.2015C>T	XP_011507670.1:p.Pro672Leu
XM_011509369.1:c.1040C>T	XP_011507671.1:p.Pro347Leu
XM_011509365.2:c.2597C>T	XP_011507667.1:p.Pro866Leu
XM_011509369.2:c.1040C>T	XP_011507671.1:p.Pro347Leu
XM_017000851.1:c.1754C>T	XP_016856340.1:p.Pro585Leu
XM_017000852.1:c.2597C>T	XP_016856341.1:p.Pro866Leu
NM_201253.3:c.2597C>T MANE Select	NP_957705.1:p.Pro866Leu
NM_001193640.2:c.2261C>T	NP_001180569.1:p.Pro754Leu
NM_001257965.2:c.2390C>T	NP_001244894.1:p.Pro797Leu
NR_047563.2:n.2550C>T
NR_047564.2:n.2758C>T
NM_001257966.2:c.2128+5966C>T	NP_001244895.1:n.2128+5966C>T