Canonical Allele Identifier: CA344032883

Gene: CRB1

Linked Data

• ClinVar Variation Id: 866666
• ClinVar RCV Id: RCV001074870 ; RCV001862838 ; RCV003455385 ; RCV003455383 ; RCV003455384
• dbSNP Id: rs1457623741
• gnomAD v2: 1-197390867-C-T
• gnomAD v3: 1-197421737-C-T
• gnomAD v4: 1-197421737-C-T
• MyVariant Identifiers: chr1:g.197390867C>T (hg19) ; chr1:g.197421737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421737C>T , CM000663.2:g.197421737C>T	GRCh38
NC_000001.10:g.197390867C>T , CM000663.1:g.197390867C>T	GRCh37
NC_000001.9:g.195657490C>T	NCBI36
NG_008483.1:g.158460C>T
NG_008483.2:g.225276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1909C>T MANE Select	ENSP00000356370.3:p.Pro637Ser
ENST00000638467.1:c.1909C>T	ENSP00000491102.1:p.Pro637Ser
ENST00000681519.1:c.790C>T	ENSP00000505267.1:p.Pro264Ser
ENST00000367397.1:c.52C>T	ENSP00000356367.1:p.Pro18Ser
ENST00000367399.6:c.1573C>T	ENSP00000356369.2:p.Pro525Ser
ENST00000367400.7:c.1909C>T	ENSP00000356370.3:p.Pro637Ser
ENST00000484075.5:c.1909C>T	ENSP00000433932.1:p.Pro637Ser
ENST00000535699.5:c.1702C>T	ENSP00000438786.1:p.Pro568Ser
ENST00000538660.5:c.1909C>T	ENSP00000438091.1:p.Pro637Ser
NM_001193640.1:c.1573C>T	NP_001180569.1:p.Pro525Ser
NM_001257965.1:c.1702C>T	NP_001244894.1:p.Pro568Ser
NM_001257966.1:c.1909C>T	NP_001244895.1:p.Pro637Ser
NM_201253.2:c.1909C>T	NP_957705.1:p.Pro637Ser
NR_047563.1:n.1923-13C>T
NR_047564.1:n.2118C>T
XM_011509365.1:c.1909C>T	XP_011507667.1:p.Pro637Ser
XM_011509366.1:c.1909C>T	XP_011507668.1:p.Pro637Ser
XM_011509367.1:c.1909C>T	XP_011507669.1:p.Pro637Ser
XM_011509368.1:c.1327C>T	XP_011507670.1:p.Pro443Ser
XM_011509369.1:c.352C>T	XP_011507671.1:p.Pro118Ser
XM_011509365.2:c.1909C>T	XP_011507667.1:p.Pro637Ser
XM_011509369.2:c.352C>T	XP_011507671.1:p.Pro118Ser
XM_017000851.1:c.1066C>T	XP_016856340.1:p.Pro356Ser
XM_017000852.1:c.1909C>T	XP_016856341.1:p.Pro637Ser
NM_201253.3:c.1909C>T MANE Select	NP_957705.1:p.Pro637Ser
NM_001193640.2:c.1573C>T	NP_001180569.1:p.Pro525Ser
NM_001257965.2:c.1702C>T	NP_001244894.1:p.Pro568Ser
NR_047563.2:n.1875-13C>T
NR_047564.2:n.2070C>T
NM_001257966.2:c.1909C>T	NP_001244895.1:p.Pro637Ser