Canonical Allele Identifier: CA391537324

Gene: TRPM1

Linked Data

• gnomAD v4: 15-31070144-G-A
• MyVariant Identifiers: chr15:g.31362347G>A (hg19) ; chr15:g.31070144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070144G>A , CM000677.2:g.31070144G>A	GRCh38
NC_000015.9:g.31362347G>A , CM000677.1:g.31362347G>A	GRCh37
NC_000015.8:g.29149639G>A	NCBI36
NG_016453.1:g.36578C>T
NG_016453.2:g.96130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.100C>T	ENSP00000518752.1:p.Gln34Ter
ENST00000397795.7:c.100C>T	ENSP00000380897.2:p.Gln34Ter
ENST00000558445.6:c.217C>T	ENSP00000452946.2:p.Gln73Ter
ENST00000559177.6:c.217C>T	ENSP00000453477.2:p.Gln73Ter
ENST00000559179.2:c.100C>T	ENSP00000453851.1:p.Gln34Ter
ENST00000256552.11:c.166C>T MANE Select	ENSP00000256552.7:p.Gln56Ter
ENST00000256552.10:c.166C>T	ENSP00000256552.6:p.Gln56Ter
ENST00000397795.6:c.100C>T	ENSP00000380897.2:p.Gln34Ter
ENST00000542188.5:c.217C>T	ENSP00000437849.1:p.Gln73Ter
ENST00000558445.5:c.100C>T	ENSP00000452946.1:p.Gln34Ter
ENST00000559177.5:c.100C>T	ENSP00000453477.1:p.Gln34Ter
ENST00000559179.1:c.100C>T	ENSP00000453851.1:p.Gln34Ter
ENST00000560658.5:c.100C>T	ENSP00000454077.1:p.Gln34Ter
NM_001252020.1:c.217C>T	NP_001238949.1:p.Gln73Ter
NM_001252024.1:c.166C>T	NP_001238953.1:p.Gln56Ter
NM_001252030.1:c.100C>T	NP_001238959.1:p.Gln34Ter
NM_002420.5:c.100C>T	NP_002411.3:p.Gln34Ter
NM_001252024.2:c.166C>T MANE Select	NP_001238953.1:p.Gln56Ter
NM_001252030.2:c.100C>T	NP_001238959.1:p.Gln34Ter
NM_002420.6:c.100C>T	NP_002411.3:p.Gln34Ter
NM_001252020.2:c.217C>T	NP_001238949.1:p.Gln73Ter