Canonical Allele Identifier: CA3110585

Gene: TMEM131L

Linked Data

• dbSNP Id: rs546087781
• ExAC: 4:154557523 G / A
• gnomAD v4: 4-153636371-G-A
• MyVariant Identifiers: chr4:g.154557523G>A (hg19) ; chr4:g.153636371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.153636371G>A , CM000666.2:g.153636371G>A	GRCh38
NC_000004.11:g.154557523G>A , CM000666.1:g.154557523G>A	GRCh37
NC_000004.10:g.154776973G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000409959.8:c.4628G>A MANE Select	ENSP00000386787.3:p.Ser1543Asn
ENST00000240487.5:c.3959G>A	ENSP00000240487.5:p.Ser1320Asn
ENST00000409663.7:c.4625G>A	ENSP00000386574.3:p.Ser1542Asn
ENST00000409959.7:c.4628G>A	ENSP00000386787.3:p.Ser1543Asn
NM_001131007.1:c.4628G>A	NP_001124479.1:p.Ser1543Asn
NM_015196.3:c.4625G>A	NP_056011.3:p.Ser1542Asn
XM_005262871.3:c.2750G>A	XP_005262928.2:p.Ser917Asn
XM_011531780.1:c.4715G>A	XP_011530082.1:p.Ser1572Asn
XM_011531781.1:c.4712G>A	XP_011530083.1:p.Ser1571Asn
XM_011531782.1:c.4685G>A	XP_011530084.1:p.Ser1562Asn
XM_011531783.1:c.4463G>A	XP_011530085.1:p.Ser1488Asn
XM_017007925.1:c.4625G>A	XP_016863414.1:p.Ser1542Asn
XM_017007926.1:c.4622G>A	XP_016863415.1:p.Ser1541Asn
XM_024453956.1:c.4685G>A	XP_024309724.1:p.Ser1562Asn
XM_024453957.1:c.4682G>A	XP_024309725.1:p.Ser1561Asn
XM_024453958.1:c.2750G>A	XP_024309726.1:p.Ser917Asn
NM_001131007.2:c.4628G>A MANE Select	NP_001124479.1:p.Ser1543Asn
NM_015196.4:c.4625G>A	NP_056011.3:p.Ser1542Asn