Canonical Allele Identifier: CA400191764
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185853C>G , CM000679.2:g.50185853C>G GRCh38
NC_000017.10:g.48263214C>G , CM000679.1:g.48263214C>G GRCh37
NC_000017.9:g.45618213C>G NCBI36
NG_007400.1:g.20787G>C , LRG_1:g.20787G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4173G>C MANE Select ENSP00000225964.6:p.Gln1391His
ENST00000225964.9:c.4173G>C ENSP00000225964.5:p.Gln1391His
ENST00000510710.3:n.1138G>C
NM_000088.3:c.4173G>C , LRG_1t1:c.4173G>C NP_000079.2:p.Gln1391His
XM_005257058.3:c.3903G>C XP_005257115.2:p.Gln1301His
XM_005257059.3:c.3255G>C XP_005257116.2:p.Gln1085His
XM_011524341.1:c.3975G>C XP_011522643.1:p.Gln1325His
XM_005257058.4:c.3903G>C XP_005257115.2:p.Gln1301His
XM_005257059.4:c.3255G>C XP_005257116.2:p.Gln1085His
NM_000088.4:c.4173G>C MANE Select NP_000079.2:p.Gln1391His