Canonical Allele Identifier: CA400191651
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185830C>A , CM000679.2:g.50185830C>A GRCh38
NC_000017.10:g.48263191C>A , CM000679.1:g.48263191C>A GRCh37
NC_000017.9:g.45618190C>A NCBI36
NG_007400.1:g.20810G>T , LRG_1:g.20810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4196G>T MANE Select ENSP00000225964.6:p.Arg1399Leu
ENST00000225964.9:c.4196G>T ENSP00000225964.5:p.Arg1399Leu
NM_000088.3:c.4196G>T , LRG_1t1:c.4196G>T NP_000079.2:p.Arg1399Leu
XM_005257058.3:c.3926G>T XP_005257115.2:p.Arg1309Leu
XM_005257059.3:c.3278G>T XP_005257116.2:p.Arg1093Leu
XM_011524341.1:c.3998G>T XP_011522643.1:p.Arg1333Leu
XM_005257058.4:c.3926G>T XP_005257115.2:p.Arg1309Leu
XM_005257059.4:c.3278G>T XP_005257116.2:p.Arg1093Leu
NM_000088.4:c.4196G>T MANE Select NP_000079.2:p.Arg1399Leu