Canonical Allele Identifier: CA249293363

Gene: RB1 LPAR6

Linked Data

• dbSNP Id: rs752795210
• gnomAD v2: 13-48997728-C-T
• gnomAD v3: 13-48423592-C-T
• gnomAD v4: 13-48423592-C-T
• MyVariant Identifiers: chr13:g.48997728C>T (hg19) ; chr13:g.48423592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48423592C>T , CM000675.2:g.48423592C>T	GRCh38
NC_000013.10:g.48997728C>T , CM000675.1:g.48997728C>T	GRCh37
NC_000013.9:g.47895729C>T	NCBI36
NG_009009.1:g.124846C>T , LRG_517:g.124846C>T
NG_012874.1:g.26113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-29401C>T (RB1) MANE Select	ENSP00000267163.4:n.1696-29401C>T
ENST00000643064.1:c.194+42149C>T (RB1)
ENST00000650461.1:c.1696-29401C>T (RB1)	ENSP00000497193.1:n.1696-29401C>T
ENST00000267163.4:c.1696-29401C>T (RB1)	ENSP00000267163.4:n.1696-29401C>T
ENST00000345941.2:c.-1094-802G>A (LPAR6)	ENSP00000344353.2:n.-1094-802G>A
ENST00000378434.8:c.-1347+401G>A (LPAR6)	ENSP00000367691.3:n.-1347+401G>A
ENST00000465365.6:n.662+401G>A (LPAR6)
NM_000321.2:c.1696-29401C>T , LRG_517t1:c.1696-29401C>T (RB1)	NP_000312.2:n.1696-29401C>T
NM_001162497.1:c.-1094-802G>A (LPAR6)	NP_001155969.1:n.-1094-802G>A
NM_005767.5:c.-1347+401G>A (LPAR6)	NP_005758.2:n.-1347+401G>A
XM_011535171.1:c.1435-29401C>T (RB1)	XP_011533473.1:n.1435-29401C>T
XM_011535171.2:c.1435-29401C>T (RB1)	XP_011533473.1:n.1435-29401C>T
NM_001162497.2:c.-1094-802G>A (LPAR6)	NP_001155969.1:n.-1094-802G>A
NM_001377316.1:c.-1094-802G>A (LPAR6)	NP_001364245.1:n.-1094-802G>A
NM_001377317.1:c.-1094-802G>A (LPAR6)	NP_001364246.1:n.-1094-802G>A
NM_005767.6:c.-1347+401G>A (LPAR6)	NP_005758.2:n.-1347+401G>A
NM_000321.3:c.1696-29401C>T (RB1) MANE Select	NP_000312.2:n.1696-29401C>T
NM_001162497.3:c.-1094-802G>A (LPAR6)	NP_001155969.1:n.-1094-802G>A
NM_001377316.2:c.-1094-802G>A (LPAR6)	NP_001364245.1:n.-1094-802G>A
NM_001377317.2:c.-1094-802G>A (LPAR6)	NP_001364246.1:n.-1094-802G>A
NM_005767.7:c.-1347+401G>A (LPAR6)	NP_005758.2:n.-1347+401G>A