Canonical Allele Identifier: CA3772571

Gene: TULP1

Linked Data

• ClinVar Variation Id: 2907152
• ClinVar RCV Id: RCV003734533
• dbSNP Id: rs774448249
• ExAC: 6:35467921 G / A
• gnomAD v2: 6-35467921-G-A
• gnomAD v3: 6-35500144-G-A
• gnomAD v4: 6-35500144-G-A
• MyVariant Identifiers: chr6:g.35467921G>A (hg19) ; chr6:g.35500144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500144G>A , CM000668.2:g.35500144G>A	GRCh38
NC_000006.11:g.35467921G>A , CM000668.1:g.35467921G>A	GRCh37
NC_000006.10:g.35575899G>A	NCBI36
NG_009077.1:g.17727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1332C>T MANE Select	ENSP00000229771.6:p.Asp444=
ENST00000229771.10:c.1332C>T	ENSP00000229771.6:p.Asp444=
ENST00000322263.8:c.1173C>T	ENSP00000319414.4:p.Asp391=
ENST00000495781.1:n.508C>T
ENST00000614066.4:c.1326C>T	ENSP00000477534.1:p.Asp442=
NM_001289395.1:c.1173C>T	NP_001276324.1:p.Asp391=
NM_003322.4:c.1332C>T	NP_003313.3:p.Asp444=
NM_003322.5:c.1332C>T	NP_003313.3:p.Asp444=
NM_003322.6:c.1332C>T MANE Select	NP_003313.3:p.Asp444=
NM_001289395.2:c.1173C>T	NP_001276324.1:p.Asp391=