Canonical Allele Identifier: CA400191785
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185858G>C , CM000679.2:g.50185858G>C GRCh38
NC_000017.10:g.48263219G>C , CM000679.1:g.48263219G>C GRCh37
NC_000017.9:g.45618218G>C NCBI36
NG_007400.1:g.20782C>G , LRG_1:g.20782C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4168C>G MANE Select ENSP00000225964.6:p.Leu1390Val
ENST00000225964.9:c.4168C>G ENSP00000225964.5:p.Leu1390Val
ENST00000510710.3:n.1133C>G
NM_000088.3:c.4168C>G , LRG_1t1:c.4168C>G NP_000079.2:p.Leu1390Val
XM_005257058.3:c.3898C>G XP_005257115.2:p.Leu1300Val
XM_005257059.3:c.3250C>G XP_005257116.2:p.Leu1084Val
XM_011524341.1:c.3970C>G XP_011522643.1:p.Leu1324Val
XM_005257058.4:c.3898C>G XP_005257115.2:p.Leu1300Val
XM_005257059.4:c.3250C>G XP_005257116.2:p.Leu1084Val
NM_000088.4:c.4168C>G MANE Select NP_000079.2:p.Leu1390Val