Canonical Allele Identifier: CA824213947

Gene: TULP1

Linked Data

• dbSNP Id: rs1408497970
• gnomAD v4: 6-35499869-C-G
• MyVariant Identifiers: chr6:g.35467646C>G (hg19) ; chr6:g.35499869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35499869C>G , CM000668.2:g.35499869C>G	GRCh38
NC_000006.11:g.35467646C>G , CM000668.1:g.35467646C>G	GRCh37
NC_000006.10:g.35575624C>G	NCBI36
NG_009077.1:g.18002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1495+112G>C MANE Select	ENSP00000229771.6:n.1495+112G>C
ENST00000229771.10:c.1495+112G>C	ENSP00000229771.6:n.1495+112G>C
ENST00000322263.8:c.1336+112G>C	ENSP00000319414.4:n.1336+112G>C
ENST00000614066.4:c.1489+112G>C	ENSP00000477534.1:n.1489+112G>C
NM_001289395.1:c.1336+112G>C	NP_001276324.1:n.1336+112G>C
NM_003322.4:c.1495+112G>C	NP_003313.3:n.1495+112G>C
NM_003322.5:c.1495+112G>C	NP_003313.3:n.1495+112G>C
NM_003322.6:c.1495+112G>C MANE Select	NP_003313.3:n.1495+112G>C
NM_001289395.2:c.1336+112G>C	NP_001276324.1:n.1336+112G>C