Canonical Allele Identifier: CA344037118

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396848T>C (hg19) ; chr1:g.197427718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427718T>C , CM000663.2:g.197427718T>C	GRCh38
NC_000001.10:g.197396848T>C , CM000663.1:g.197396848T>C	GRCh37
NC_000001.9:g.195663471T>C	NCBI36
NG_008483.1:g.164441T>C
NG_008483.2:g.231257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2393T>C MANE Select	ENSP00000356370.3:p.Leu798Ser
ENST00000638467.1:c.2393T>C	ENSP00000491102.1:p.Leu798Ser
ENST00000681519.1:c.1274T>C	ENSP00000505267.1:p.Leu425Ser
ENST00000367397.1:c.536T>C	ENSP00000356367.1:p.Leu179Ser
ENST00000367399.6:c.2057T>C	ENSP00000356369.2:p.Leu686Ser
ENST00000367400.7:c.2393T>C	ENSP00000356370.3:p.Leu798Ser
ENST00000480086.2:n.294T>C
ENST00000484075.5:c.2393T>C	ENSP00000433932.1:p.Leu798Ser
ENST00000535699.5:c.2186T>C	ENSP00000438786.1:p.Leu729Ser
ENST00000538660.5:c.2128+5762T>C	ENSP00000438091.1:n.2128+5762T>C
NM_001193640.1:c.2057T>C	NP_001180569.1:p.Leu686Ser
NM_001257965.1:c.2186T>C	NP_001244894.1:p.Leu729Ser
NM_001257966.1:c.2128+5762T>C	NP_001244895.1:n.2128+5762T>C
NM_201253.2:c.2393T>C	NP_957705.1:p.Leu798Ser
NR_047563.1:n.2394T>C
NR_047564.1:n.2602T>C
XM_011509365.1:c.2393T>C	XP_011507667.1:p.Leu798Ser
XM_011509366.1:c.2393T>C	XP_011507668.1:p.Leu798Ser
XM_011509367.1:c.2393T>C	XP_011507669.1:p.Leu798Ser
XM_011509368.1:c.1811T>C	XP_011507670.1:p.Leu604Ser
XM_011509369.1:c.836T>C	XP_011507671.1:p.Leu279Ser
XM_011509365.2:c.2393T>C	XP_011507667.1:p.Leu798Ser
XM_011509369.2:c.836T>C	XP_011507671.1:p.Leu279Ser
XM_017000851.1:c.1550T>C	XP_016856340.1:p.Leu517Ser
XM_017000852.1:c.2393T>C	XP_016856341.1:p.Leu798Ser
NM_201253.3:c.2393T>C MANE Select	NP_957705.1:p.Leu798Ser
NM_001193640.2:c.2057T>C	NP_001180569.1:p.Leu686Ser
NM_001257965.2:c.2186T>C	NP_001244894.1:p.Leu729Ser
NR_047563.2:n.2346T>C
NR_047564.2:n.2554T>C
NM_001257966.2:c.2128+5762T>C	NP_001244895.1:n.2128+5762T>C