Canonical Allele Identifier: CA344047544

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404382C>G (hg19) ; chr1:g.197435252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435252C>G , CM000663.2:g.197435252C>G	GRCh38
NC_000001.10:g.197404382C>G , CM000663.1:g.197404382C>G	GRCh37
NC_000001.9:g.195671005C>G	NCBI36
NG_008483.1:g.171975C>G
NG_008483.2:g.238791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3389C>G MANE Select	ENSP00000356370.3:p.Thr1130Ser
ENST00000638467.1:c.3389C>G	ENSP00000491102.1:p.Thr1130Ser
ENST00000681519.1:c.2270C>G	ENSP00000505267.1:p.Thr757Ser
ENST00000367397.1:c.1532C>G	ENSP00000356367.1:p.Thr511Ser
ENST00000367399.6:c.3053C>G	ENSP00000356369.2:p.Thr1018Ser
ENST00000367400.7:c.3389C>G	ENSP00000356370.3:p.Thr1130Ser
ENST00000484075.5:c.3389C>G	ENSP00000433932.1:p.Thr1130Ser
ENST00000535699.5:c.3317C>G	ENSP00000438786.1:p.Thr1106Ser
ENST00000538660.5:c.2129-348C>G	ENSP00000438091.1:n.2129-348C>G
NM_001193640.1:c.3053C>G	NP_001180569.1:p.Thr1018Ser
NM_001257965.1:c.3317C>G	NP_001244894.1:p.Thr1106Ser
NM_001257966.1:c.2129-348C>G	NP_001244895.1:n.2129-348C>G
NM_201253.2:c.3389C>G	NP_957705.1:p.Thr1130Ser
NR_047563.1:n.3390C>G
NR_047564.1:n.3598C>G
XM_011509365.1:c.3389C>G	XP_011507667.1:p.Thr1130Ser
XM_011509366.1:c.3389C>G	XP_011507668.1:p.Thr1130Ser
XM_011509367.1:c.3389C>G	XP_011507669.1:p.Thr1130Ser
XM_011509368.1:c.2807C>G	XP_011507670.1:p.Thr936Ser
XM_011509369.1:c.1832C>G	XP_011507671.1:p.Thr611Ser
XM_011509365.2:c.3389C>G	XP_011507667.1:p.Thr1130Ser
XM_011509369.2:c.1832C>G	XP_011507671.1:p.Thr611Ser
XM_017000851.1:c.2546C>G	XP_016856340.1:p.Thr849Ser
XM_017000852.1:c.3524C>G	XP_016856341.1:p.Thr1175Ser
NM_201253.3:c.3389C>G MANE Select	NP_957705.1:p.Thr1130Ser
NM_001193640.2:c.3053C>G	NP_001180569.1:p.Thr1018Ser
NM_001257965.2:c.3317C>G	NP_001244894.1:p.Thr1106Ser
NR_047563.2:n.3342C>G
NR_047564.2:n.3550C>G
NM_001257966.2:c.2129-348C>G	NP_001244895.1:n.2129-348C>G