Canonical Allele Identifier: CA2263917439
Gene: COL1A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193213A= , CM000679.2:g.50193213A= GRCh38
NC_000017.10:g.48270574A= , CM000679.1:g.48270574A= GRCh37
NC_000017.9:g.45625573A= NCBI36
NG_007400.1:g.13427T= , LRG_1:g.13427T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1768-166T= MANE Select ENSP00000225964.6:n.1768-166T=
ENST00000225964.9:c.1768-166T= ENSP00000225964.5:n.1768-166T=
ENST00000476387.1:n.117-166T=
NM_000088.3:c.1768-166T= , LRG_1t1:c.1768-166T= NP_000079.2:n.1768-166T=
XM_005257058.3:c.1768-166T= XP_005257115.2:n.1768-166T=
XM_005257059.3:c.958-520T= XP_005257116.2:n.958-520T=
XM_011524341.1:c.1570-166T= XP_011522643.1:n.1570-166T=
XM_005257058.4:c.1768-166T= XP_005257115.2:n.1768-166T=
XM_005257059.4:c.958-520T= XP_005257116.2:n.958-520T=
NM_000088.4:c.1768-166T= MANE Select NP_000079.2:n.1768-166T=
Search 100 bp 5'
Search 100 bp 3'