Canonical Allele Identifier: CA008036

Gene: MLH1

Linked Data

• ClinVar Variation Id: 142684
• ClinVar RCV Id: RCV000132038
• dbSNP Id: rs529363061
• gnomAD v2: 3-37034841-G-A
• gnomAD v3: 3-36993350-G-A
• gnomAD v4: 3-36993350-G-A
• MyVariant Identifiers: chr3:g.37034841G>A (hg19) ; chr3:g.36993350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993350G>A , CM000665.2:g.36993350G>A	GRCh38
NC_000003.11:g.37034841G>A , CM000665.1:g.37034841G>A	GRCh37
NC_000003.10:g.37009845G>A	NCBI36
NG_007109.2:g.5001G>A , LRG_216:g.5001G>A
NG_008418.1:g.4955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-198G>A	ENSP00000500979.2:n.-198G>A
ENST00000231790.6:c.-198G>A	ENSP00000231790.2:n.-198G>A
ENST00000536378.5:c.-830G>A	ENSP00000444286.2:n.-830G>A
NM_000249.3:c.-198G>A , LRG_216t1:c.-198G>A	NP_000240.1:n.-198G>A
NM_001258271.1:c.-198G>A	NP_001245200.1:n.-198G>A
NM_001258273.1:c.-830G>A	NP_001245202.1:n.-830G>A
NM_001167617.2:c.-714G>A	NP_001161089.1:n.-714G>A
NM_001167618.2:c.-1143G>A	NP_001161090.1:n.-1143G>A
NM_001167619.2:c.-1056G>A	NP_001161091.1:n.-1056G>A
NM_001258274.2:c.-1293G>A	NP_001245203.1:n.-1293G>A
NM_001354615.1:c.-824G>A	NP_001341544.1:n.-824G>A
NM_001354616.1:c.-824G>A	NP_001341545.1:n.-824G>A
NM_001354617.1:c.-916G>A	NP_001341546.1:n.-916G>A
NM_001354618.1:c.-1148G>A	NP_001341547.1:n.-1148G>A
NM_001354619.1:c.-1272G>A	NP_001341548.1:n.-1272G>A
NM_001354620.1:c.-482G>A	NP_001341549.1:n.-482G>A
NM_001354621.1:c.-1241G>A	NP_001341550.1:n.-1241G>A
NM_001354622.1:c.-1354G>A	NP_001341551.1:n.-1354G>A
NM_001354623.1:c.-1263G>A	NP_001341552.1:n.-1263G>A
NM_001354624.1:c.-1024G>A	NP_001341553.1:n.-1024G>A
NM_001354625.1:c.-922G>A	NP_001341554.1:n.-922G>A
NM_001354626.1:c.-1019G>A	NP_001341555.1:n.-1019G>A
NM_001354627.1:c.-1251G>A	NP_001341556.1:n.-1251G>A
NM_001354628.1:c.-198G>A	NP_001341557.1:n.-198G>A
NM_001354629.1:c.-198G>A	NP_001341558.1:n.-198G>A
NM_001354630.1:c.-198G>A	NP_001341559.1:n.-198G>A