Canonical Allele Identifier: CA344045206

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404064C>A (hg19) ; chr1:g.197434934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434934C>A , CM000663.2:g.197434934C>A	GRCh38
NC_000001.10:g.197404064C>A , CM000663.1:g.197404064C>A	GRCh37
NC_000001.9:g.195670687C>A	NCBI36
NG_008483.1:g.171657C>A
NG_008483.2:g.238473C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3071C>A MANE Select	ENSP00000356370.3:p.Thr1024Lys
ENST00000638467.1:c.3071C>A	ENSP00000491102.1:p.Thr1024Lys
ENST00000681519.1:c.1952C>A	ENSP00000505267.1:p.Thr651Lys
ENST00000367397.1:c.1214C>A	ENSP00000356367.1:p.Thr405Lys
ENST00000367399.6:c.2735C>A	ENSP00000356369.2:p.Thr912Lys
ENST00000367400.7:c.3071C>A	ENSP00000356370.3:p.Thr1024Lys
ENST00000484075.5:c.3071C>A	ENSP00000433932.1:p.Thr1024Lys
ENST00000535699.5:c.2999C>A	ENSP00000438786.1:p.Thr1000Lys
ENST00000538660.5:c.2129-666C>A	ENSP00000438091.1:n.2129-666C>A
NM_001193640.1:c.2735C>A	NP_001180569.1:p.Thr912Lys
NM_001257965.1:c.2999C>A	NP_001244894.1:p.Thr1000Lys
NM_001257966.1:c.2129-666C>A	NP_001244895.1:n.2129-666C>A
NM_201253.2:c.3071C>A	NP_957705.1:p.Thr1024Lys
NR_047563.1:n.3072C>A
NR_047564.1:n.3280C>A
XM_011509365.1:c.3071C>A	XP_011507667.1:p.Thr1024Lys
XM_011509366.1:c.3071C>A	XP_011507668.1:p.Thr1024Lys
XM_011509367.1:c.3071C>A	XP_011507669.1:p.Thr1024Lys
XM_011509368.1:c.2489C>A	XP_011507670.1:p.Thr830Lys
XM_011509369.1:c.1514C>A	XP_011507671.1:p.Thr505Lys
XM_011509365.2:c.3071C>A	XP_011507667.1:p.Thr1024Lys
XM_011509369.2:c.1514C>A	XP_011507671.1:p.Thr505Lys
XM_017000851.1:c.2228C>A	XP_016856340.1:p.Thr743Lys
XM_017000852.1:c.3206C>A	XP_016856341.1:p.Thr1069Lys
NM_201253.3:c.3071C>A MANE Select	NP_957705.1:p.Thr1024Lys
NM_001193640.2:c.2735C>A	NP_001180569.1:p.Thr912Lys
NM_001257965.2:c.2999C>A	NP_001244894.1:p.Thr1000Lys
NR_047563.2:n.3024C>A
NR_047564.2:n.3232C>A
NM_001257966.2:c.2129-666C>A	NP_001244895.1:n.2129-666C>A