Canonical Allele Identifier: CA344044019

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403956T>A (hg19) ; chr1:g.197434826T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434826T>A , CM000663.2:g.197434826T>A	GRCh38
NC_000001.10:g.197403956T>A , CM000663.1:g.197403956T>A	GRCh37
NC_000001.9:g.195670579T>A	NCBI36
NG_008483.1:g.171549T>A
NG_008483.2:g.238365T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2963T>A MANE Select	ENSP00000356370.3:p.Ile988Lys
ENST00000638467.1:c.2963T>A	ENSP00000491102.1:p.Ile988Lys
ENST00000681519.1:c.1844T>A	ENSP00000505267.1:p.Ile615Lys
ENST00000367397.1:c.1106T>A	ENSP00000356367.1:p.Ile369Lys
ENST00000367399.6:c.2627T>A	ENSP00000356369.2:p.Ile876Lys
ENST00000367400.7:c.2963T>A	ENSP00000356370.3:p.Ile988Lys
ENST00000484075.5:c.2963T>A	ENSP00000433932.1:p.Ile988Lys
ENST00000535699.5:c.2891T>A	ENSP00000438786.1:p.Ile964Lys
ENST00000538660.5:c.2129-774T>A	ENSP00000438091.1:n.2129-774T>A
NM_001193640.1:c.2627T>A	NP_001180569.1:p.Ile876Lys
NM_001257965.1:c.2891T>A	NP_001244894.1:p.Ile964Lys
NM_001257966.1:c.2129-774T>A	NP_001244895.1:n.2129-774T>A
NM_201253.2:c.2963T>A	NP_957705.1:p.Ile988Lys
NR_047563.1:n.2964T>A
NR_047564.1:n.3172T>A
XM_011509365.1:c.2963T>A	XP_011507667.1:p.Ile988Lys
XM_011509366.1:c.2963T>A	XP_011507668.1:p.Ile988Lys
XM_011509367.1:c.2963T>A	XP_011507669.1:p.Ile988Lys
XM_011509368.1:c.2381T>A	XP_011507670.1:p.Ile794Lys
XM_011509369.1:c.1406T>A	XP_011507671.1:p.Ile469Lys
XM_011509365.2:c.2963T>A	XP_011507667.1:p.Ile988Lys
XM_011509369.2:c.1406T>A	XP_011507671.1:p.Ile469Lys
XM_017000851.1:c.2120T>A	XP_016856340.1:p.Ile707Lys
XM_017000852.1:c.3098T>A	XP_016856341.1:p.Ile1033Lys
NM_201253.3:c.2963T>A MANE Select	NP_957705.1:p.Ile988Lys
NM_001193640.2:c.2627T>A	NP_001180569.1:p.Ile876Lys
NM_001257965.2:c.2891T>A	NP_001244894.1:p.Ile964Lys
NR_047563.2:n.2916T>A
NR_047564.2:n.3124T>A
NM_001257966.2:c.2129-774T>A	NP_001244895.1:n.2129-774T>A