Canonical Allele Identifier: CA249285749

Gene: RB1 LPAR6

Linked Data

• dbSNP Id: rs565096783
• gnomAD v3: 13-48412789-C-G
• gnomAD v4: 13-48412789-C-G
• MyVariant Identifiers: chr13:g.48986925C>G (hg19) ; chr13:g.48412789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412789C>G , CM000675.2:g.48412789C>G	GRCh38
NC_000013.10:g.48986925C>G , CM000675.1:g.48986925C>G	GRCh37
NC_000013.9:g.47884926C>G	NCBI36
NG_009009.1:g.114043C>G , LRG_517:g.114043C>G
NG_012874.1:g.36916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+31346C>G (RB1) MANE Select	ENSP00000267163.4:n.1695+31346C>G
ENST00000620633.5:c.-366G>C (LPAR6) MANE Select	ENSP00000482660.1:n.-366G>C
ENST00000643064.1:c.194+31346C>G (RB1)
ENST00000650461.1:c.1695+31346C>G (RB1)	ENSP00000497193.1:n.1695+31346C>G
ENST00000267163.4:c.1695+31346C>G (RB1)	ENSP00000267163.4:n.1695+31346C>G
ENST00000345941.2:c.-366G>C (LPAR6)	ENSP00000344353.2:n.-366G>C
ENST00000378434.8:c.-366G>C (LPAR6)	ENSP00000367691.3:n.-366G>C
ENST00000462781.5:n.114+2911G>C (LPAR6)
ENST00000465365.6:n.1068+2911G>C (LPAR6)
ENST00000470937.1:n.117+2911G>C (LPAR6)
ENST00000620633.4:c.-366G>C (LPAR6)	ENSP00000482660.1:n.-366G>C
NM_000321.2:c.1695+31346C>G , LRG_517t1:c.1695+31346C>G (RB1)	NP_000312.2:n.1695+31346C>G
NM_001162497.1:c.-366G>C (LPAR6)	NP_001155969.1:n.-366G>C
NM_001162498.1:c.-366G>C (LPAR6)	NP_001155970.1:n.-366G>C
NM_005767.5:c.-366G>C (LPAR6)	NP_005758.2:n.-366G>C
XM_011535171.1:c.1434+31346C>G (RB1)	XP_011533473.1:n.1434+31346C>G
XM_011535171.2:c.1434+31346C>G (RB1)	XP_011533473.1:n.1434+31346C>G
XM_024449302.1:c.-366G>C (LPAR6)	XP_024305070.1:n.-366G>C
XM_024449303.1:c.192+2911G>C (LPAR6)	XP_024305071.1:n.192+2911G>C
XM_024449304.1:c.192+2911G>C (LPAR6)	XP_024305072.1:n.192+2911G>C
NM_001162497.2:c.-366G>C (LPAR6)	NP_001155969.1:n.-366G>C
NM_001162498.2:c.-366G>C (LPAR6)	NP_001155970.1:n.-366G>C
NM_001377316.1:c.-366G>C (LPAR6)	NP_001364245.1:n.-366G>C
NM_001377317.1:c.-366G>C (LPAR6)	NP_001364246.1:n.-366G>C
NM_005767.6:c.-366G>C (LPAR6)	NP_005758.2:n.-366G>C
NM_000321.3:c.1695+31346C>G (RB1) MANE Select	NP_000312.2:n.1695+31346C>G
NM_001162497.3:c.-366G>C (LPAR6)	NP_001155969.1:n.-366G>C
NM_001162498.3:c.-366G>C (LPAR6) MANE Select	NP_001155970.1:n.-366G>C
NM_001377316.2:c.-366G>C (LPAR6)	NP_001364245.1:n.-366G>C
NM_001377317.2:c.-366G>C (LPAR6)	NP_001364246.1:n.-366G>C
NM_005767.7:c.-366G>C (LPAR6)	NP_005758.2:n.-366G>C