Canonical Allele Identifier: CA476737609

Linked Data

MyVariant Identifiers: chr11:g.102661498G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790767G>C , CM000673.2:g.102790767G>C GRCh38
NC_000011.9:g.102661498G>C , CM000673.1:g.102661498G>C GRCh37
NC_000011.8:g.102166708G>C NCBI36
NG_011740.1:g.12469C>G
NG_011740.2:g.12469C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.1236C>G (MMP1) MANE Select ENSP00000322788.6:p.Pro412=
ENST00000680179.1:n.414C>G (MMP1)
ENST00000681445.1:n.410C>G (MMP1)
ENST00000681643.1:n.436C>G (MMP1)
ENST00000315274.6:c.1236C>G (MMP1) ENSP00000322788.6:p.Pro412=
ENST00000371455.7:n.325-7257G>C (WTAPP1)
ENST00000525739.6:n.390-2378G>C (WTAPP1)
ENST00000544704.1:n.344+6703G>C (WTAPP1)
NM_001145938.1:c.1038C>G (MMP1) NP_001139410.1:p.Pro346=
NM_002421.3:c.1236C>G (MMP1) NP_002412.1:p.Pro412=
NR_038390.1:n.390-2378G>C (WTAPP1)
NM_002421.4:c.1236C>G (MMP1) MANE Select NP_002412.1:p.Pro412=
NM_001145938.2:c.1038C>G (MMP1) NP_001139410.1:p.Pro346=