Canonical Allele Identifier: CA400227596
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199416A>C , CM000679.2:g.50199416A>C GRCh38
NC_000017.10:g.48276777A>C , CM000679.1:g.48276777A>C GRCh37
NC_000017.9:g.45631776A>C NCBI36
NG_007400.1:g.7224T>G , LRG_1:g.7224T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.369+2T>G MANE Select ENSP00000225964.6:n.369+2T>G
ENST00000225964.9:c.369+2T>G ENSP00000225964.5:n.369+2T>G
ENST00000474644.1:n.590+2T>G
ENST00000507689.1:c.423+2T>G ENSP00000460459.1:n.423+2T>G
NM_000088.3:c.369+2T>G , LRG_1t1:c.369+2T>G NP_000079.2:n.369+2T>G
XM_005257058.3:c.369+2T>G XP_005257115.2:n.369+2T>G
XM_005257059.3:c.369+2T>G XP_005257116.2:n.369+2T>G
XM_011524341.1:c.369+2T>G XP_011522643.1:n.369+2T>G
XM_005257058.4:c.369+2T>G XP_005257115.2:n.369+2T>G
XM_005257059.4:c.369+2T>G XP_005257116.2:n.369+2T>G
NM_000088.4:c.369+2T>G MANE Select NP_000079.2:n.369+2T>G