Canonical Allele Identifier: CA400215949
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194159G>C , CM000679.2:g.50194159G>C GRCh38
NC_000017.10:g.48271520G>C , CM000679.1:g.48271520G>C GRCh37
NC_000017.9:g.45626519G>C NCBI36
NG_007400.1:g.12481C>G , LRG_1:g.12481C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1639C>G MANE Select ENSP00000225964.6:p.Pro547Ala
ENST00000225964.9:c.1639C>G ENSP00000225964.5:p.Pro547Ala
ENST00000463440.1:n.29C>G
ENST00000471344.1:n.583C>G
NM_000088.3:c.1639C>G , LRG_1t1:c.1639C>G NP_000079.2:p.Pro547Ala
XM_005257058.3:c.1639C>G XP_005257115.2:p.Pro547Ala
XM_005257059.3:c.958-1466C>G XP_005257116.2:n.958-1466C>G
XM_011524341.1:c.1441C>G XP_011522643.1:p.Pro481Ala
XM_005257058.4:c.1639C>G XP_005257115.2:p.Pro547Ala
XM_005257059.4:c.958-1466C>G XP_005257116.2:n.958-1466C>G
NM_000088.4:c.1639C>G MANE Select NP_000079.2:p.Pro547Ala