Canonical Allele Identifier: CA400192069
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185903C>A , CM000679.2:g.50185903C>A GRCh38
NC_000017.10:g.48263264C>A , CM000679.1:g.48263264C>A GRCh37
NC_000017.9:g.45618263C>A NCBI36
NG_007400.1:g.20737G>T , LRG_1:g.20737G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4123G>T MANE Select ENSP00000225964.6:p.Ala1375Ser
ENST00000225964.9:c.4123G>T ENSP00000225964.5:p.Ala1375Ser
ENST00000510710.3:n.1088G>T
NM_000088.3:c.4123G>T , LRG_1t1:c.4123G>T NP_000079.2:p.Ala1375Ser
XM_005257058.3:c.3853G>T XP_005257115.2:p.Ala1285Ser
XM_005257059.3:c.3205G>T XP_005257116.2:p.Ala1069Ser
XM_011524341.1:c.3925G>T XP_011522643.1:p.Ala1309Ser
XM_005257058.4:c.3853G>T XP_005257115.2:p.Ala1285Ser
XM_005257059.4:c.3205G>T XP_005257116.2:p.Ala1069Ser
NM_000088.4:c.4123G>T MANE Select NP_000079.2:p.Ala1375Ser