Canonical Allele Identifier: CA363778987

Gene: TULP1

Linked Data

• dbSNP Id: rs1423449256
• gnomAD v2: 6-35467925-C-A
• gnomAD v4: 6-35500148-C-A
• MyVariant Identifiers: chr6:g.35467925C>A (hg19) ; chr6:g.35500148C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1328G>T MANE Select	ENSP00000229771.6:p.Ser443Ile
ENST00000229771.10:c.1328G>T	ENSP00000229771.6:p.Ser443Ile
ENST00000322263.8:c.1169G>T	ENSP00000319414.4:p.Ser390Ile
ENST00000495781.1:n.504G>T
ENST00000614066.4:c.1322G>T	ENSP00000477534.1:p.Ser441Ile
NM_001289395.1:c.1169G>T	NP_001276324.1:p.Ser390Ile
NM_003322.4:c.1328G>T	NP_003313.3:p.Ser443Ile
NM_003322.5:c.1328G>T	NP_003313.3:p.Ser443Ile
NM_003322.6:c.1328G>T MANE Select	NP_003313.3:p.Ser443Ile
NM_001289395.2:c.1169G>T	NP_001276324.1:p.Ser390Ile