Canonical Allele Identifier: CA344037196

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396864T>A (hg19) ; chr1:g.197427734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427734T>A , CM000663.2:g.197427734T>A	GRCh38
NC_000001.10:g.197396864T>A , CM000663.1:g.197396864T>A	GRCh37
NC_000001.9:g.195663487T>A	NCBI36
NG_008483.1:g.164457T>A
NG_008483.2:g.231273T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2409T>A MANE Select	ENSP00000356370.3:p.Tyr803Ter
ENST00000638467.1:c.2409T>A	ENSP00000491102.1:p.Tyr803Ter
ENST00000681519.1:c.1290T>A	ENSP00000505267.1:p.Tyr430Ter
ENST00000367397.1:c.552T>A	ENSP00000356367.1:p.Tyr184Ter
ENST00000367399.6:c.2073T>A	ENSP00000356369.2:p.Tyr691Ter
ENST00000367400.7:c.2409T>A	ENSP00000356370.3:p.Tyr803Ter
ENST00000480086.2:n.310T>A
ENST00000484075.5:c.2409T>A	ENSP00000433932.1:p.Tyr803Ter
ENST00000535699.5:c.2202T>A	ENSP00000438786.1:p.Tyr734Ter
ENST00000538660.5:c.2128+5778T>A	ENSP00000438091.1:n.2128+5778T>A
NM_001193640.1:c.2073T>A	NP_001180569.1:p.Tyr691Ter
NM_001257965.1:c.2202T>A	NP_001244894.1:p.Tyr734Ter
NM_001257966.1:c.2128+5778T>A	NP_001244895.1:n.2128+5778T>A
NM_201253.2:c.2409T>A	NP_957705.1:p.Tyr803Ter
NR_047563.1:n.2410T>A
NR_047564.1:n.2618T>A
XM_011509365.1:c.2409T>A	XP_011507667.1:p.Tyr803Ter
XM_011509366.1:c.2409T>A	XP_011507668.1:p.Tyr803Ter
XM_011509367.1:c.2409T>A	XP_011507669.1:p.Tyr803Ter
XM_011509368.1:c.1827T>A	XP_011507670.1:p.Tyr609Ter
XM_011509369.1:c.852T>A	XP_011507671.1:p.Tyr284Ter
XM_011509365.2:c.2409T>A	XP_011507667.1:p.Tyr803Ter
XM_011509369.2:c.852T>A	XP_011507671.1:p.Tyr284Ter
XM_017000851.1:c.1566T>A	XP_016856340.1:p.Tyr522Ter
XM_017000852.1:c.2409T>A	XP_016856341.1:p.Tyr803Ter
NM_201253.3:c.2409T>A MANE Select	NP_957705.1:p.Tyr803Ter
NM_001193640.2:c.2073T>A	NP_001180569.1:p.Tyr691Ter
NM_001257965.2:c.2202T>A	NP_001244894.1:p.Tyr734Ter
NR_047563.2:n.2362T>A
NR_047564.2:n.2570T>A
NM_001257966.2:c.2128+5778T>A	NP_001244895.1:n.2128+5778T>A