Canonical Allele Identifier: CA3772980

Gene: TULP1

Linked Data

• ClinVar Variation Id: 356474
• ClinVar RCV Id: RCV000305203 ; RCV000359869 ; RCV000945530
• dbSNP Id: rs377105125
• ExAC: 6:35479525 C / T
• gnomAD v2: 6-35479525-C-T
• gnomAD v3: 6-35511748-C-T
• gnomAD v4: 6-35511748-C-T
• COSMIC: COSM1444023
• MyVariant Identifiers: chr6:g.35479525C>T (hg19) ; chr6:g.35511748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35511748C>T , CM000668.2:g.35511748C>T	GRCh38
NC_000006.11:g.35479525C>T , CM000668.1:g.35479525C>T	GRCh37
NC_000006.10:g.35587503C>T	NCBI36
NG_009077.1:g.6123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.249G>A MANE Select	ENSP00000229771.6:p.Ala83=
ENST00000229771.10:c.249G>A	ENSP00000229771.6:p.Ala83=
ENST00000322263.8:c.190+432G>A	ENSP00000319414.4:n.190+432G>A
ENST00000373892.4:n.220G>A
ENST00000428978.1:c.190+432G>A	ENSP00000406765.1:n.190+432G>A
ENST00000448446.2:n.154G>A
ENST00000614066.4:c.249G>A	ENSP00000477534.1:p.Ala83=
NM_001289395.1:c.190+432G>A	NP_001276324.1:n.190+432G>A
NM_003322.4:c.249G>A	NP_003313.3:p.Ala83=
NM_003322.5:c.249G>A	NP_003313.3:p.Ala83=
NM_003322.6:c.249G>A MANE Select	NP_003313.3:p.Ala83=
NM_001289395.2:c.190+432G>A	NP_001276324.1:n.190+432G>A