Canonical Allele Identifier: CA344035998

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446977A>C (hg19) ; chr1:g.197477847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477847A>C , CM000663.2:g.197477847A>C	GRCh38
NC_000001.10:g.197446977A>C , CM000663.1:g.197446977A>C	GRCh37
NC_000001.9:g.195713600A>C	NCBI36
NG_008483.1:g.214570A>C
NG_008483.2:g.281386A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4189A>C MANE Select	ENSP00000356370.3:p.Met1397Leu
ENST00000367399.6:c.3853A>C	ENSP00000356369.2:p.Met1285Leu
ENST00000367400.7:c.4189A>C	ENSP00000356370.3:p.Met1397Leu
ENST00000448952.1:c.423A>C	ENSP00000395407.1:n.423A>C
ENST00000484075.5:c.*300A>C	ENSP00000433932.1:n.*300A>C
ENST00000535699.5:c.4117A>C	ENSP00000438786.1:p.Met1373Leu
ENST00000538660.5:c.2581A>C	ENSP00000438091.1:p.Met861Leu
NM_001193640.1:c.3853A>C	NP_001180569.1:p.Met1285Leu
NM_001257965.1:c.4117A>C	NP_001244894.1:p.Met1373Leu
NM_001257966.1:c.2581A>C	NP_001244895.1:p.Met861Leu
NM_201253.2:c.4189A>C	NP_957705.1:p.Met1397Leu
NR_047563.1:n.4190A>C
NR_047564.1:n.4640A>C
XM_011509366.1:c.*294A>C	XP_011507668.1:n.*294A>C
XM_011509367.1:c.*168A>C	XP_011507669.1:n.*168A>C
XM_011509368.1:c.3607A>C	XP_011507670.1:p.Met1203Leu
XM_011509369.1:c.2632A>C	XP_011507671.1:p.Met878Leu
XM_011509369.2:c.2632A>C	XP_011507671.1:p.Met878Leu
XM_017000851.1:c.3346A>C	XP_016856340.1:p.Met1116Leu
XM_017000852.1:c.4324A>C	XP_016856341.1:p.Met1442Leu
NM_201253.3:c.4189A>C MANE Select	NP_957705.1:p.Met1397Leu
NM_001193640.2:c.3853A>C	NP_001180569.1:p.Met1285Leu
NM_001257965.2:c.4117A>C	NP_001244894.1:p.Met1373Leu
NR_047563.2:n.4142A>C
NR_047564.2:n.4592A>C
NM_001257966.2:c.2581A>C	NP_001244895.1:p.Met861Leu