Canonical Allele Identifier: CA3772881

Gene: TULP1

Linked Data

• ClinVar Variation Id: 356470
• ClinVar RCV Id: RCV000334230 ; RCV000388773 ; RCV000878438 ; RCV004530441
• dbSNP Id: rs142641513
• ExAC: 6:35477661 T / C
• gnomAD v2: 6-35477661-T-C
• gnomAD v3: 6-35509884-T-C
• gnomAD v4: 6-35509884-T-C
• MyVariant Identifiers: chr6:g.35477661T>C (hg19) ; chr6:g.35509884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35509884T>C , CM000668.2:g.35509884T>C	GRCh38
NC_000006.11:g.35477661T>C , CM000668.1:g.35477661T>C	GRCh37
NC_000006.10:g.35585639T>C	NCBI36
NG_009077.1:g.7987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.544A>G MANE Select	ENSP00000229771.6:p.Arg182Gly
ENST00000229771.10:c.544A>G	ENSP00000229771.6:p.Arg182Gly
ENST00000322263.8:c.385A>G	ENSP00000319414.4:p.Arg129Gly
ENST00000373892.4:n.321-572A>G
ENST00000428978.1:c.400A>G	ENSP00000406765.1:p.Arg134Gly
ENST00000614066.4:c.544A>G	ENSP00000477534.1:p.Arg182Gly
NM_001289395.1:c.385A>G	NP_001276324.1:p.Arg129Gly
NM_003322.4:c.544A>G	NP_003313.3:p.Arg182Gly
NM_003322.5:c.544A>G	NP_003313.3:p.Arg182Gly
NM_003322.6:c.544A>G MANE Select	NP_003313.3:p.Arg182Gly
NM_001289395.2:c.385A>G	NP_001276324.1:p.Arg129Gly