Canonical Allele Identifier: CA358506155

Gene: TMEM131L

Linked Data

• dbSNP Id: rs1333550233
• gnomAD v2: 4-154557528-G-C
• MyVariant Identifiers: chr4:g.154557528G>C (hg19) ; chr4:g.153636376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.153636376G>C , CM000666.2:g.153636376G>C	GRCh38
NC_000004.11:g.154557528G>C , CM000666.1:g.154557528G>C	GRCh37
NC_000004.10:g.154776978G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000409959.8:c.4633G>C MANE Select	ENSP00000386787.3:p.Val1545Leu
ENST00000240487.5:c.3964G>C	ENSP00000240487.5:p.Val1322Leu
ENST00000409663.7:c.4630G>C	ENSP00000386574.3:p.Val1544Leu
ENST00000409959.7:c.4633G>C	ENSP00000386787.3:p.Val1545Leu
NM_001131007.1:c.4633G>C	NP_001124479.1:p.Val1545Leu
NM_015196.3:c.4630G>C	NP_056011.3:p.Val1544Leu
XM_005262871.3:c.2755G>C	XP_005262928.2:p.Val919Leu
XM_011531780.1:c.4720G>C	XP_011530082.1:p.Val1574Leu
XM_011531781.1:c.4717G>C	XP_011530083.1:p.Val1573Leu
XM_011531782.1:c.4690G>C	XP_011530084.1:p.Val1564Leu
XM_011531783.1:c.4468G>C	XP_011530085.1:p.Val1490Leu
XM_017007925.1:c.4630G>C	XP_016863414.1:p.Val1544Leu
XM_017007926.1:c.4627G>C	XP_016863415.1:p.Val1543Leu
XM_024453956.1:c.4690G>C	XP_024309724.1:p.Val1564Leu
XM_024453957.1:c.4687G>C	XP_024309725.1:p.Val1563Leu
XM_024453958.1:c.2755G>C	XP_024309726.1:p.Val919Leu
NM_001131007.2:c.4633G>C MANE Select	NP_001124479.1:p.Val1545Leu
NM_015196.4:c.4630G>C	NP_056011.3:p.Val1544Leu