Canonical Allele Identifier: CA363779143

Gene: TULP1

Linked Data

• ClinVar Variation Id: 444681
• ClinVar RCV Id: RCV000512978 ; RCV001199561
• dbSNP Id: rs1554125521
• gnomAD v4: 6-35503614-A-G
• MyVariant Identifiers: chr6:g.35471391A>G (hg19) ; chr6:g.35503614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503614A>G , CM000668.2:g.35503614A>G	GRCh38
NC_000006.11:g.35471391A>G , CM000668.1:g.35471391A>G	GRCh37
NC_000006.10:g.35579369A>G	NCBI36
NG_009077.1:g.14257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1268T>C MANE Select	ENSP00000229771.6:p.Val423Ala
ENST00000229771.10:c.1268T>C	ENSP00000229771.6:p.Val423Ala
ENST00000322263.8:c.1109T>C	ENSP00000319414.4:p.Val370Ala
ENST00000495781.1:n.444T>C
ENST00000496434.5:n.285T>C
ENST00000614066.4:c.1262T>C	ENSP00000477534.1:p.Val421Ala
NM_001289395.1:c.1109T>C	NP_001276324.1:p.Val370Ala
NM_003322.4:c.1268T>C	NP_003313.3:p.Val423Ala
NM_003322.5:c.1268T>C	NP_003313.3:p.Val423Ala
NM_003322.6:c.1268T>C MANE Select	NP_003313.3:p.Val423Ala
NM_001289395.2:c.1109T>C	NP_001276324.1:p.Val370Ala