Canonical Allele Identifier: CA363778985

Gene: TULP1

Linked Data

• ClinVar Variation Id: 3184856
• ClinVar RCV Id: RCV004481725
• MyVariant Identifiers: chr6:g.35467925C>T (hg19) ; chr6:g.35500148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500148C>T , CM000668.2:g.35500148C>T	GRCh38
NC_000006.11:g.35467925C>T , CM000668.1:g.35467925C>T	GRCh37
NC_000006.10:g.35575903C>T	NCBI36
NG_009077.1:g.17723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1328G>A MANE Select	ENSP00000229771.6:p.Ser443Asn
ENST00000229771.10:c.1328G>A	ENSP00000229771.6:p.Ser443Asn
ENST00000322263.8:c.1169G>A	ENSP00000319414.4:p.Ser390Asn
ENST00000495781.1:n.504G>A
ENST00000614066.4:c.1322G>A	ENSP00000477534.1:p.Ser441Asn
NM_001289395.1:c.1169G>A	NP_001276324.1:p.Ser390Asn
NM_003322.4:c.1328G>A	NP_003313.3:p.Ser443Asn
NM_003322.5:c.1328G>A	NP_003313.3:p.Ser443Asn
NM_003322.6:c.1328G>A MANE Select	NP_003313.3:p.Ser443Asn
NM_001289395.2:c.1169G>A	NP_001276324.1:p.Ser390Asn