Canonical Allele Identifier: CA400221271
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196165G>C , CM000679.2:g.50196165G>C GRCh38
NC_000017.10:g.48273526G>C , CM000679.1:g.48273526G>C GRCh37
NC_000017.9:g.45628525G>C NCBI36
NG_007400.1:g.10475C>G , LRG_1:g.10475C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.992C>G MANE Select ENSP00000225964.6:p.Ala331Gly
ENST00000225964.9:c.992C>G ENSP00000225964.5:p.Ala331Gly
ENST00000485870.1:n.317C>G
NM_000088.3:c.992C>G , LRG_1t1:c.992C>G NP_000079.2:p.Ala331Gly
XM_005257058.3:c.992C>G XP_005257115.2:p.Ala331Gly
XM_005257059.3:c.957+149C>G XP_005257116.2:n.957+149C>G
XM_011524341.1:c.957+149C>G XP_011522643.1:n.957+149C>G
XM_005257058.4:c.992C>G XP_005257115.2:p.Ala331Gly
XM_005257059.4:c.957+149C>G XP_005257116.2:n.957+149C>G
NM_000088.4:c.992C>G MANE Select NP_000079.2:p.Ala331Gly