Canonical Allele Identifier: CA824214121

Gene: TULP1

Linked Data

• ClinVar Variation Id: 1950198
• ClinVar RCV Id: RCV002671577
• dbSNP Id: rs1421431727
• gnomAD v4: 6-35500015-TGAGGCCTG-T
• MyVariant Identifiers: chr6:g.35467793_35467800del (hg19) ; chr6:g.35500016_35500023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500017_35500024del , CM000668.2:g.35500017_35500024del	GRCh38
NC_000006.11:g.35467794_35467801del , CM000668.1:g.35467794_35467801del	GRCh37
NC_000006.10:g.35575772_35575779del	NCBI36
NG_009077.1:g.17848_17855del

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1453_1460del MANE Select	ENSP00000229771.6:p.Gln485SerfsTer10
ENST00000229771.10:c.1453_1460del	ENSP00000229771.6:p.Gln485SerfsTer10
ENST00000322263.8:c.1294_1301del	ENSP00000319414.4:p.Gln432SerfsTer10
ENST00000614066.4:c.1447_1454del	ENSP00000477534.1:p.Gln483SerfsTer10
NM_001289395.1:c.1294_1301del	NP_001276324.1:p.Gln432SerfsTer10
NM_003322.4:c.1453_1460del	NP_003313.3:p.Gln485SerfsTer10
NM_003322.5:c.1453_1460del	NP_003313.3:p.Gln485SerfsTer10
NM_003322.6:c.1453_1460del MANE Select	NP_003313.3:p.Gln485SerfsTer10
NM_001289395.2:c.1294_1301del	NP_001276324.1:p.Gln432SerfsTer10