Canonical Allele Identifier: CA8644242
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379751
dbSNP Id: rs147266928

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185845T>C , CM000679.2:g.50185845T>C GRCh38
NC_000017.10:g.48263206T>C , CM000679.1:g.48263206T>C GRCh37
NC_000017.9:g.45618205T>C NCBI36
NG_007400.1:g.20795A>G , LRG_1:g.20795A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4181A>G MANE Select ENSP00000225964.6:p.Asn1394Ser
ENST00000225964.9:c.4181A>G ENSP00000225964.5:p.Asn1394Ser
ENST00000510710.3:n.1146A>G
NM_000088.3:c.4181A>G , LRG_1t1:c.4181A>G NP_000079.2:p.Asn1394Ser
XM_005257058.3:c.3911A>G XP_005257115.2:p.Asn1304Ser
XM_005257059.3:c.3263A>G XP_005257116.2:p.Asn1088Ser
XM_011524341.1:c.3983A>G XP_011522643.1:p.Asn1328Ser
XM_005257058.4:c.3911A>G XP_005257115.2:p.Asn1304Ser
XM_005257059.4:c.3263A>G XP_005257116.2:p.Asn1088Ser
NM_000088.4:c.4181A>G MANE Select NP_000079.2:p.Asn1394Ser