Canonical Allele Identifier: CA344045105

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404053G>C (hg19) ; chr1:g.197434923G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434923G>C , CM000663.2:g.197434923G>C	GRCh38
NC_000001.10:g.197404053G>C , CM000663.1:g.197404053G>C	GRCh37
NC_000001.9:g.195670676G>C	NCBI36
NG_008483.1:g.171646G>C
NG_008483.2:g.238462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3060G>C MANE Select	ENSP00000356370.3:p.Met1020Ile
ENST00000638467.1:c.3060G>C	ENSP00000491102.1:p.Met1020Ile
ENST00000681519.1:c.1941G>C	ENSP00000505267.1:p.Met647Ile
ENST00000367397.1:c.1203G>C	ENSP00000356367.1:p.Met401Ile
ENST00000367399.6:c.2724G>C	ENSP00000356369.2:p.Met908Ile
ENST00000367400.7:c.3060G>C	ENSP00000356370.3:p.Met1020Ile
ENST00000484075.5:c.3060G>C	ENSP00000433932.1:p.Met1020Ile
ENST00000535699.5:c.2988G>C	ENSP00000438786.1:p.Met996Ile
ENST00000538660.5:c.2129-677G>C	ENSP00000438091.1:n.2129-677G>C
NM_001193640.1:c.2724G>C	NP_001180569.1:p.Met908Ile
NM_001257965.1:c.2988G>C	NP_001244894.1:p.Met996Ile
NM_001257966.1:c.2129-677G>C	NP_001244895.1:n.2129-677G>C
NM_201253.2:c.3060G>C	NP_957705.1:p.Met1020Ile
NR_047563.1:n.3061G>C
NR_047564.1:n.3269G>C
XM_011509365.1:c.3060G>C	XP_011507667.1:p.Met1020Ile
XM_011509366.1:c.3060G>C	XP_011507668.1:p.Met1020Ile
XM_011509367.1:c.3060G>C	XP_011507669.1:p.Met1020Ile
XM_011509368.1:c.2478G>C	XP_011507670.1:p.Met826Ile
XM_011509369.1:c.1503G>C	XP_011507671.1:p.Met501Ile
XM_011509365.2:c.3060G>C	XP_011507667.1:p.Met1020Ile
XM_011509369.2:c.1503G>C	XP_011507671.1:p.Met501Ile
XM_017000851.1:c.2217G>C	XP_016856340.1:p.Met739Ile
XM_017000852.1:c.3195G>C	XP_016856341.1:p.Met1065Ile
NM_201253.3:c.3060G>C MANE Select	NP_957705.1:p.Met1020Ile
NM_001193640.2:c.2724G>C	NP_001180569.1:p.Met908Ile
NM_001257965.2:c.2988G>C	NP_001244894.1:p.Met996Ile
NR_047563.2:n.3013G>C
NR_047564.2:n.3221G>C
NM_001257966.2:c.2129-677G>C	NP_001244895.1:n.2129-677G>C