Canonical Allele Identifier: CA400214850
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192841C>T , CM000679.2:g.50192841C>T GRCh38
NC_000017.10:g.48270202C>T , CM000679.1:g.48270202C>T GRCh37
NC_000017.9:g.45625201C>T NCBI36
NG_007400.1:g.13799G>A , LRG_1:g.13799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1831G>A MANE Select ENSP00000225964.6:p.Gly611Ser
ENST00000225964.9:c.1831G>A ENSP00000225964.5:p.Gly611Ser
ENST00000476387.1:n.180G>A
NM_000088.3:c.1831G>A , LRG_1t1:c.1831G>A NP_000079.2:p.Gly611Ser
XM_005257058.3:c.1831G>A XP_005257115.2:p.Gly611Ser
XM_005257059.3:c.958-148G>A XP_005257116.2:n.958-148G>A
XM_011524341.1:c.1633G>A XP_011522643.1:p.Gly545Ser
XM_005257058.4:c.1831G>A XP_005257115.2:p.Gly611Ser
XM_005257059.4:c.958-148G>A XP_005257116.2:n.958-148G>A
NM_000088.4:c.1831G>A MANE Select NP_000079.2:p.Gly611Ser