Canonical Allele Identifier: CA236254

Gene: TULP1

Linked Data

• ClinVar Variation Id: 191207
• ClinVar RCV Id: RCV000171394 ; RCV001257784 ; RCV003888608
• dbSNP Id: rs770045008
• ExAC: 6:35471403 C / T
• gnomAD v2: 6-35471403-C-T
• gnomAD v3: 6-35503626-C-T
• gnomAD v4: 6-35503626-C-T
• MyVariant Identifiers: chr6:g.35471403C>T (hg19) ; chr6:g.35471403_35471404delinsTG (hg19) ; chr6:g.35503626C>T (hg38) ; chr6:g.35503626_35503627delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503626C>T , CM000668.2:g.35503626C>T	GRCh38
NC_000006.11:g.35471403C>T , CM000668.1:g.35471403C>T	GRCh37
NC_000006.10:g.35579381C>T	NCBI36
NG_009077.1:g.14245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1256G>A MANE Select	ENSP00000229771.6:p.Arg419Gln
ENST00000229771.10:c.1256G>A	ENSP00000229771.6:p.Arg419Gln
ENST00000322263.8:c.1097G>A	ENSP00000319414.4:p.Arg366Gln
ENST00000495781.1:n.432G>A
ENST00000496434.5:n.273G>A
ENST00000614066.4:c.1250G>A	ENSP00000477534.1:p.Arg417Gln
NM_001289395.1:c.1097G>A	NP_001276324.1:p.Arg366Gln
NM_003322.4:c.1256G>A	NP_003313.3:p.Arg419Gln
NM_003322.5:c.1256G>A	NP_003313.3:p.Arg419Gln
NM_003322.6:c.1256G>A MANE Select	NP_003313.3:p.Arg419Gln
NM_001289395.2:c.1097G>A	NP_001276324.1:p.Arg366Gln