Canonical Allele Identifier: CA3772909

Gene: TULP1

Linked Data

• ClinVar Variation Id: 356471
• ClinVar RCV Id: RCV000289767 ; RCV000344699 ; RCV001516160
• dbSNP Id: rs185636479
• ExAC: 6:35478626 C / G
• gnomAD v2: 6-35478626-C-G
• gnomAD v3: 6-35510849-C-G
• gnomAD v4: 6-35510849-C-G
• MyVariant Identifiers: chr6:g.35478626C>G (hg19) ; chr6:g.35510849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35510849C>G , CM000668.2:g.35510849C>G	GRCh38
NC_000006.11:g.35478626C>G , CM000668.1:g.35478626C>G	GRCh37
NC_000006.10:g.35586604C>G	NCBI36
NG_009077.1:g.7022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.499+12G>C MANE Select	ENSP00000229771.6:n.499+12G>C
ENST00000229771.10:c.499+12G>C	ENSP00000229771.6:n.499+12G>C
ENST00000322263.8:c.340+12G>C	ENSP00000319414.4:n.340+12G>C
ENST00000373892.4:n.320+799G>C
ENST00000428978.1:c.355+12G>C	ENSP00000406765.1:n.355+12G>C
ENST00000448446.2:n.416G>C
ENST00000614066.4:c.499+12G>C	ENSP00000477534.1:n.499+12G>C
NM_001289395.1:c.340+12G>C	NP_001276324.1:n.340+12G>C
NM_003322.4:c.499+12G>C	NP_003313.3:n.499+12G>C
NM_003322.5:c.499+12G>C	NP_003313.3:n.499+12G>C
NM_003322.6:c.499+12G>C MANE Select	NP_003313.3:n.499+12G>C
NM_001289395.2:c.340+12G>C	NP_001276324.1:n.340+12G>C