Canonical Allele Identifier: CA344035564

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446876T>A (hg19) ; chr1:g.197477746T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477746T>A , CM000663.2:g.197477746T>A	GRCh38
NC_000001.10:g.197446876T>A , CM000663.1:g.197446876T>A	GRCh37
NC_000001.9:g.195713499T>A	NCBI36
NG_008483.1:g.214469T>A
NG_008483.2:g.281285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4088T>A MANE Select	ENSP00000356370.3:p.Ile1363Asn
ENST00000367399.6:c.3752T>A	ENSP00000356369.2:p.Ile1251Asn
ENST00000367400.7:c.4088T>A	ENSP00000356370.3:p.Ile1363Asn
ENST00000448952.1:c.322T>A	ENSP00000395407.1:n.322T>A
ENST00000484075.5:c.*199T>A	ENSP00000433932.1:n.*199T>A
ENST00000535699.5:c.4016T>A	ENSP00000438786.1:p.Ile1339Asn
ENST00000538660.5:c.2480T>A	ENSP00000438091.1:p.Ile827Asn
NM_001193640.1:c.3752T>A	NP_001180569.1:p.Ile1251Asn
NM_001257965.1:c.4016T>A	NP_001244894.1:p.Ile1339Asn
NM_001257966.1:c.2480T>A	NP_001244895.1:p.Ile827Asn
NM_201253.2:c.4088T>A	NP_957705.1:p.Ile1363Asn
NR_047563.1:n.4089T>A
NR_047564.1:n.4539T>A
XM_011509366.1:c.*193T>A	XP_011507668.1:n.*193T>A
XM_011509367.1:c.*67T>A	XP_011507669.1:n.*67T>A
XM_011509368.1:c.3506T>A	XP_011507670.1:p.Ile1169Asn
XM_011509369.1:c.2531T>A	XP_011507671.1:p.Ile844Asn
XM_011509369.2:c.2531T>A	XP_011507671.1:p.Ile844Asn
XM_017000851.1:c.3245T>A	XP_016856340.1:p.Ile1082Asn
XM_017000852.1:c.4223T>A	XP_016856341.1:p.Ile1408Asn
NM_201253.3:c.4088T>A MANE Select	NP_957705.1:p.Ile1363Asn
NM_001193640.2:c.3752T>A	NP_001180569.1:p.Ile1251Asn
NM_001257965.2:c.4016T>A	NP_001244894.1:p.Ile1339Asn
NR_047563.2:n.4041T>A
NR_047564.2:n.4491T>A
NM_001257966.2:c.2480T>A	NP_001244895.1:p.Ile827Asn