Canonical Allele Identifier: CA344032774

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421688-G-T
• COSMIC: COSM4771752 ; COSM4771753
• MyVariant Identifiers: chr1:g.197390818G>T (hg19) ; chr1:g.197421688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421688G>T , CM000663.2:g.197421688G>T	GRCh38
NC_000001.10:g.197390818G>T , CM000663.1:g.197390818G>T	GRCh37
NC_000001.9:g.195657441G>T	NCBI36
NG_008483.1:g.158411G>T
NG_008483.2:g.225227G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1860G>T MANE Select	ENSP00000356370.3:p.Met620Ile
ENST00000638467.1:c.1860G>T	ENSP00000491102.1:p.Met620Ile
ENST00000681519.1:c.741G>T	ENSP00000505267.1:p.Met247Ile
ENST00000367397.1:c.3G>T	ENSP00000356367.1:p.Met1Ile
ENST00000367399.6:c.1524G>T	ENSP00000356369.2:p.Met508Ile
ENST00000367400.7:c.1860G>T	ENSP00000356370.3:p.Met620Ile
ENST00000484075.5:c.1860G>T	ENSP00000433932.1:p.Met620Ile
ENST00000535699.5:c.1653G>T	ENSP00000438786.1:p.Met551Ile
ENST00000538660.5:c.1860G>T	ENSP00000438091.1:p.Met620Ile
NM_001193640.1:c.1524G>T	NP_001180569.1:p.Met508Ile
NM_001257965.1:c.1653G>T	NP_001244894.1:p.Met551Ile
NM_001257966.1:c.1860G>T	NP_001244895.1:p.Met620Ile
NM_201253.2:c.1860G>T	NP_957705.1:p.Met620Ile
NR_047563.1:n.1923-62G>T
NR_047564.1:n.2069G>T
XM_011509365.1:c.1860G>T	XP_011507667.1:p.Met620Ile
XM_011509366.1:c.1860G>T	XP_011507668.1:p.Met620Ile
XM_011509367.1:c.1860G>T	XP_011507669.1:p.Met620Ile
XM_011509368.1:c.1278G>T	XP_011507670.1:p.Met426Ile
XM_011509369.1:c.303G>T	XP_011507671.1:p.Met101Ile
XM_011509365.2:c.1860G>T	XP_011507667.1:p.Met620Ile
XM_011509369.2:c.303G>T	XP_011507671.1:p.Met101Ile
XM_017000851.1:c.1017G>T	XP_016856340.1:p.Met339Ile
XM_017000852.1:c.1860G>T	XP_016856341.1:p.Met620Ile
NM_201253.3:c.1860G>T MANE Select	NP_957705.1:p.Met620Ile
NM_001193640.2:c.1524G>T	NP_001180569.1:p.Met508Ile
NM_001257965.2:c.1653G>T	NP_001244894.1:p.Met551Ile
NR_047563.2:n.1875-62G>T
NR_047564.2:n.2021G>T
NM_001257966.2:c.1860G>T	NP_001244895.1:p.Met620Ile