Canonical Allele Identifier: CA344045378

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404083T>G (hg19) ; chr1:g.197434953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434953T>G , CM000663.2:g.197434953T>G	GRCh38
NC_000001.10:g.197404083T>G , CM000663.1:g.197404083T>G	GRCh37
NC_000001.9:g.195670706T>G	NCBI36
NG_008483.1:g.171676T>G
NG_008483.2:g.238492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3090T>G MANE Select	ENSP00000356370.3:p.Asn1030Lys
ENST00000638467.1:c.3090T>G	ENSP00000491102.1:p.Asn1030Lys
ENST00000681519.1:c.1971T>G	ENSP00000505267.1:p.Asn657Lys
ENST00000367397.1:c.1233T>G	ENSP00000356367.1:p.Asn411Lys
ENST00000367399.6:c.2754T>G	ENSP00000356369.2:p.Asn918Lys
ENST00000367400.7:c.3090T>G	ENSP00000356370.3:p.Asn1030Lys
ENST00000484075.5:c.3090T>G	ENSP00000433932.1:p.Asn1030Lys
ENST00000535699.5:c.3018T>G	ENSP00000438786.1:p.Asn1006Lys
ENST00000538660.5:c.2129-647T>G	ENSP00000438091.1:n.2129-647T>G
NM_001193640.1:c.2754T>G	NP_001180569.1:p.Asn918Lys
NM_001257965.1:c.3018T>G	NP_001244894.1:p.Asn1006Lys
NM_001257966.1:c.2129-647T>G	NP_001244895.1:n.2129-647T>G
NM_201253.2:c.3090T>G	NP_957705.1:p.Asn1030Lys
NR_047563.1:n.3091T>G
NR_047564.1:n.3299T>G
XM_011509365.1:c.3090T>G	XP_011507667.1:p.Asn1030Lys
XM_011509366.1:c.3090T>G	XP_011507668.1:p.Asn1030Lys
XM_011509367.1:c.3090T>G	XP_011507669.1:p.Asn1030Lys
XM_011509368.1:c.2508T>G	XP_011507670.1:p.Asn836Lys
XM_011509369.1:c.1533T>G	XP_011507671.1:p.Asn511Lys
XM_011509365.2:c.3090T>G	XP_011507667.1:p.Asn1030Lys
XM_011509369.2:c.1533T>G	XP_011507671.1:p.Asn511Lys
XM_017000851.1:c.2247T>G	XP_016856340.1:p.Asn749Lys
XM_017000852.1:c.3225T>G	XP_016856341.1:p.Asn1075Lys
NM_201253.3:c.3090T>G MANE Select	NP_957705.1:p.Asn1030Lys
NM_001193640.2:c.2754T>G	NP_001180569.1:p.Asn918Lys
NM_001257965.2:c.3018T>G	NP_001244894.1:p.Asn1006Lys
NR_047563.2:n.3043T>G
NR_047564.2:n.3251T>G
NM_001257966.2:c.2129-647T>G	NP_001244895.1:n.2129-647T>G